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Camptomelic dysplasia(CMPD)

MedGen UID:
354620
Concept ID:
C1861922
Disease or Syndrome
Synonyms: Campomelic Dysplasia; CMPD; CMPD1/SRA1
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): SOX9 (17q24.3)
 
Monarch Initiative: MONDO:0007251
OMIM®: 114290
Orphanet: ORPHA140

Disease characteristics

Excerpted from the GeneReview: Campomelic Dysplasia
Campomelic dysplasia (CD) is a skeletal dysplasia characterized by distinctive facies, Pierre Robin sequence with cleft palate, shortening and bowing of long bones, and clubfeet. Other findings include laryngotracheomalacia with respiratory compromise and ambiguous genitalia or normal female external genitalia in most individuals with a 46,XY karyotype. Many affected infants die in the neonatal period; additional findings identified in long-term survivors include short stature, cervical spine instability with cord compression, progressive scoliosis, and hearing impairment. [from GeneReviews]
Authors:
Sheila Unger  |  Gerd Scherer  |  Andrea Superti-Furga   view full author information

Additional descriptions

From OMIM
Campomelic dysplasia (CMPD) is an autosomal dominant skeletal dysplasia characterized by congenital shortness and bowing of long tubular bones, especially in the lower extremities, as well as by hypoplastic scapulae, narrow iliac wings, and nonmineralized thoracic pedicles. CMPD is often lethal in the first year of life, due to respiratory insufficiency related to small chest size and tracheobronchial hypoplasia (summary by Matsushita et al., 2013). SOX9 mutations causing campomelic dysplasia have also been associated with 46,XY sex reversal, with marked variability in the degree of gonadal dysgenesis among patients carrying the same mutation (Cameron and Sinclair, 1997).  http://www.omim.org/entry/114290
From MedlinePlus Genetics
Campomelic dysplasia is a severe disorder that affects development of the skeleton, reproductive system, and other parts of the body. This condition is often life-threatening in the newborn period.

The term "campomelic" comes from the Greek words for "bent limb." Affected individuals are typically born with bowing of the long bones in the legs, and occasionally, bowing in the arms. Bowing can cause characteristic skin dimples to form over the curved bone, especially on the lower legs. People with campomelic dysplasia usually have short legs, dislocated hips, underdeveloped shoulder blades, 11 pairs of ribs instead of 12, bone abnormalities in the neck, and inward- and upward-turning feet (clubfeet). These skeletal abnormalities begin developing before birth and can often be seen on ultrasound. When affected individuals have features of this disorder but do not have bowed limbs, they are said to have acampomelic campomelic dysplasia.

Approximately 75 percent of affected individuals with a typical male chromosome pattern (46,XY) have normal female genitalia or genitalia that do not look clearly male or clearly female. Internal reproductive organs may not correspond with the external genitalia; the internal organs can be male (testes), female (ovaries), or a combination of the two. For example, an individual with female external genitalia may have testes or a combination of testes and ovaries.

Affected individuals have distinctive facial features, including a small chin, prominent eyes, and a flat face. They also have a large head compared to their body size. A particular group of physical features, called Pierre Robin sequence, is common in people with campomelic dysplasia. Pierre Robin sequence includes an opening in the roof of the mouth (a cleft palate), a tongue that is placed further back than normal (glossoptosis), and a small lower jaw (micrognathia). People with campomelic dysplasia are often born with weakened cartilage that forms the upper respiratory tract. This abnormality, called laryngotracheomalacia, partially blocks the airway and causes difficulty breathing. Laryngotracheomalacia contributes to the poor survival of infants with campomelic dysplasia.

Only a few people with campomelic dysplasia survive past infancy. As these individuals age, they may develop an abnormal curvature of the spine (scoliosis) and other spine abnormalities that compress the spinal cord. People with campomelic dysplasia may also have short stature and hearing loss.  https://medlineplus.gov/genetics/condition/campomelic-dysplasia

Clinical features

From HPO
Hydronephrosis
MedGen UID:
42531
Concept ID:
C0020295
Disease or Syndrome
Severe distention of the kidney with dilation of the renal pelvis and calices.
Hypospadias
MedGen UID:
163083
Concept ID:
C0848558
Congenital Abnormality
Abnormal position of urethral meatus on the ventral penile shaft (underside) characterized by displacement of the urethral meatus from the tip of the glans penis to the ventral surface of the penis, scrotum, or perineum.
Sex reversal
MedGen UID:
868596
Concept ID:
C4022995
Finding
Development of the reproductive system is inconsistent with the chromosomal sex.
Talipes equinovarus
MedGen UID:
3130
Concept ID:
C0009081
Congenital Abnormality
Clubfoot is a congenital limb deformity defined as fixation of the foot in cavus, adductus, varus, and equinus (i.e., inclined inwards, axially rotated outwards, and pointing downwards) with concomitant soft tissue abnormalities (Cardy et al., 2007). Clubfoot may occur in isolation or as part of a syndrome (e.g., diastrophic dysplasia, 222600). Clubfoot has been reported with deficiency of long bones and mirror-image polydactyly (Gurnett et al., 2008; Klopocki et al., 2012).
Pes planus
MedGen UID:
42034
Concept ID:
C0016202
Anatomical Abnormality
A foot where the longitudinal arch of the foot is in contact with the ground or floor when the individual is standing; or, in a patient lying supine, a foot where the arch is in contact with the surface of a flat board pressed against the sole of the foot by the examiner with a pressure similar to that expected from weight bearing; or, the height of the arch is reduced.
Hallux valgus
MedGen UID:
5416
Concept ID:
C0018536
Anatomical Abnormality
Lateral deviation of the great toe (i.e., in the direction of the little toe).
Dislocated radial head
MedGen UID:
488814
Concept ID:
C0265563
Congenital Abnormality
A dislocation of the head of the radius from its socket in the elbow joint.
Short phalanx of finger
MedGen UID:
163753
Concept ID:
C0877165
Finding
Short (hypoplastic) phalanx of finger, affecting one or more phalanges.
Fibular hypoplasia
MedGen UID:
316909
Concept ID:
C1832119
Finding
Underdevelopment of the fibula.
Tibial bowing
MedGen UID:
332360
Concept ID:
C1837081
Finding
A bending or abnormal curvature of the tibia.
Bilateral talipes equinovarus
MedGen UID:
332956
Concept ID:
C1837835
Congenital Abnormality
Bilateral clubfoot deformity.
Patellar hypoplasia
MedGen UID:
327021
Concept ID:
C1840068
Finding
Underdevelopment of the patella.
Short 1st metacarpal
MedGen UID:
376561
Concept ID:
C1849311
Finding
A developmental defect characterized by reduced length of the first metacarpal (long bone) of the hand.
Anterior tibial bowing
MedGen UID:
350550
Concept ID:
C1861937
Finding
An abnormal anterior bending or curvature of the tibia.
Shortening of all phalanges of fingers
MedGen UID:
868728
Concept ID:
C4023133
Anatomical Abnormality
Abnormal reduction in length affecting all phalanges.
Shortening of all phalanges of the toes
MedGen UID:
870800
Concept ID:
C4025257
Anatomical Abnormality
Developmental hypoplasia (shortening) of all phalanges of the foot.
Metatarsus adductus
MedGen UID:
898667
Concept ID:
C4082169
Anatomical Abnormality
The metatarsals are deviated medially (tibially), that is, the bones in the front half of the foot bend or turn in toward the body.
Abnormal heart morphology
MedGen UID:
6748
Concept ID:
C0018798
Congenital Abnormality
Any structural anomaly of the heart.
Disproportionate short-limb short stature
MedGen UID:
342370
Concept ID:
C1849937
Finding
A type of disproportionate short stature characterized by a short limbs but an average-sized trunk.
Neonatal short-limb short stature
MedGen UID:
337984
Concept ID:
C1850171
Finding
A type of short-limbed dwarfism that is manifest beginning in the neonatal period.
Failure to thrive
MedGen UID:
746019
Concept ID:
C2315100
Disease or Syndrome
Failure to thrive (FTT) refers to a child whose physical growth is substantially below the norm.
Feeding difficulties
MedGen UID:
65429
Concept ID:
C0232466
Finding
Impaired ability to eat related to problems gathering food and getting ready to suck, chew, or swallow it.
Conductive hearing impairment
MedGen UID:
9163
Concept ID:
C0018777
Disease or Syndrome
An abnormality of vibrational conductance of sound to the inner ear leading to impairment of sensory perception of sound.
Low-set ears
MedGen UID:
65980
Concept ID:
C0239234
Congenital Abnormality
Upper insertion of the ear to the scalp below an imaginary horizontal line drawn between the inner canthi of the eye and extending posteriorly to the ear.
Hearing impairment
MedGen UID:
235586
Concept ID:
C1384666
Disease or Syndrome
A decreased magnitude of the sensory perception of sound.
Hydrocephalus
MedGen UID:
9335
Concept ID:
C0020255
Disease or Syndrome
Hydrocephalus is an active distension of the ventricular system of the brain resulting from inadequate passage of CSF from its point of production within the cerebral ventricles to its point of absorption into the systemic circulation.
Seizure
MedGen UID:
20693
Concept ID:
C0036572
Sign or Symptom
A seizure is an intermittent abnormality of nervous system physiology characterized by a transient occurrence of signs and/or symptoms due to abnormal excessive or synchronous neuronal activity in the brain.
Spina bifida
MedGen UID:
38283
Concept ID:
C0080178
Congenital Abnormality
Incomplete closure of the embryonic neural tube, whereby some vertebral arches remain unfused and open. The mildest form is spina bifida occulta, followed by meningocele and meningomyelocele.
Spinal dysraphism
MedGen UID:
87487
Concept ID:
C0344479
Congenital Abnormality
A heterogeneous group of congenital spinal anomalies that result from defective closure of the neural tube early in fetal life.
Global developmental delay
MedGen UID:
107838
Concept ID:
C0557874
Finding
A delay in the achievement of motor or mental milestones in the domains of development of a child, including motor skills, speech and language, cognitive skills, and social and emotional skills. This term should only be used to describe children younger than five years of age.
Moderate global developmental delay
MedGen UID:
500807
Concept ID:
C2237142
Finding
A moderate delay in the achievement of motor or mental milestones in the domains of development of a child.
Mild global developmental delay
MedGen UID:
861405
Concept ID:
C4012968
Finding
A mild delay in the achievement of motor or mental milestones in the domains of development of a child.
Hip dislocation
MedGen UID:
42455
Concept ID:
C0019554
Injury or Poisoning
Displacement of the femur from its normal location in the hip joint.
Micrognathia
MedGen UID:
44428
Concept ID:
C0025990
Congenital Abnormality
Developmental hypoplasia of the mandible.
Hypotonia
MedGen UID:
10133
Concept ID:
C0026827
Finding
Hypotonia is an abnormally low muscle tone (the amount of tension or resistance to movement in a muscle). Even when relaxed, muscles have a continuous and passive partial contraction which provides some resistance to passive stretching. Hypotonia thus manifests as diminished resistance to passive stretching. Hypotonia is not the same as muscle weakness, although the two conditions can co-exist.
Scoliosis
MedGen UID:
11348
Concept ID:
C0036439
Disease or Syndrome
The presence of an abnormal lateral curvature of the spine.
Pectus carinatum
MedGen UID:
57643
Concept ID:
C0158731
Finding
A deformity of the chest caused by overgrowth of the ribs and characterized by protrusion of the sternum.
Frontal bossing
MedGen UID:
67453
Concept ID:
C0221354
Congenital Abnormality
Bilateral bulging of the lateral frontal bone prominences with relative sparing of the midline.
Cervical spine instability
MedGen UID:
96083
Concept ID:
C0410652
Disease or Syndrome
An abnormal lack of stability of the cervical spine.
Thin ribs
MedGen UID:
98095
Concept ID:
C0426818
Finding
Ribs with a reduced diameter.
Kyphoscoliosis
MedGen UID:
154361
Concept ID:
C0575158
Anatomical Abnormality
An abnormal curvature of the spine in both a coronal (lateral) and sagittal (back-to-front) plane.
Cervical kyphosis
MedGen UID:
107898
Concept ID:
C0575170
Finding
Exaggerated convexity of the cervical vertebral column, causing the cervical spine to bow outwards and take on a rounded appearance.
Hypoplastic cervical vertebrae
MedGen UID:
372079
Concept ID:
C1835570
Finding
Narrow iliac wing
MedGen UID:
373150
Concept ID:
C1836688
Finding
Decreased width of the wing (or ala) of the ilium (which is the large expanded portion which bounds the greater pelvis laterally).
Thoracic hypoplasia
MedGen UID:
373339
Concept ID:
C1837482
Congenital Abnormality
11 pairs of ribs
MedGen UID:
326950
Concept ID:
C1839731
Finding
Presence of only 11 pairs of ribs.
Joint hypermobility
MedGen UID:
336793
Concept ID:
C1844820
Finding
The capability that a joint (or a group of joints) has to move, passively and/or actively, beyond normal limits along physiological axes.
Hypoplastic scapulae
MedGen UID:
337579
Concept ID:
C1846434
Finding
Underdeveloped scapula.
Relative macrocephaly
MedGen UID:
338607
Concept ID:
C1849075
Congenital Abnormality
A relatively mild degree of macrocephaly in which the head circumference is not above two standard deviations from the mean, but appears dysproportionately large when other factors such as body stature are taken into account.
Short long bone
MedGen UID:
344385
Concept ID:
C1854912
Finding
One or more abnormally short long bone.
Bowing of the long bones
MedGen UID:
340849
Concept ID:
C1855340
Congenital Abnormality
A bending or abnormal curvature of a long bone.
Absent sternal ossification
MedGen UID:
341688
Concept ID:
C1857074
Finding
Lack of formation of mineralized bony tissue of the sternum.
Thoracic scoliosis
MedGen UID:
387910
Concept ID:
C1857790
Anatomical Abnormality
Femoral bowing
MedGen UID:
347888
Concept ID:
C1859461
Finding
Bowing (abnormal curvature) of the femur.
Hypoplastic iliac wing
MedGen UID:
351279
Concept ID:
C1865027
Anatomical Abnormality
Underdevelopment of the ilium ala.
Delayed epiphyseal ossification
MedGen UID:
351324
Concept ID:
C1865200
Finding
Wide anterior fontanel
MedGen UID:
400926
Concept ID:
C1866134
Finding
Enlargement of the anterior fontanelle with respect to age-dependent norms.
Macrocephaly
MedGen UID:
745757
Concept ID:
C2243051
Finding
Occipitofrontal (head) circumference greater than 97th centile compared to appropriate, age matched, sex-matched normal standards. Alternatively, a apparently increased size of the cranium.
Contracture of the distal interphalangeal joint of the fingers
MedGen UID:
869800
Concept ID:
C4024230
Finding
Chronic loss of joint motion in one or more distal interphalangeal joints of the fingers.
Poorly ossified cervical vertebrae
MedGen UID:
870232
Concept ID:
C4024670
Finding
Decreased ossification of the cervical vertebral bodies, i.e., of the Cervical vertebrae set.
Apnea
MedGen UID:
2009
Concept ID:
C0003578
Sign or Symptom
Lack of breathing with no movement of the respiratory muscles and no exchange of air in the lungs. This term refers to a disposition to have recurrent episodes of apnea rather than to a single event.
Stridor
MedGen UID:
11613
Concept ID:
C0038450
Sign or Symptom
Stridor is a high pitched sound resulting from turbulent air flow in the upper airway.
Tracheobronchomalacia
MedGen UID:
137939
Concept ID:
C0340231
Disease or Syndrome
Williams-Campbell syndrome is a congenital disorder characterized by severe bronchiectasis and recurrent pulmonary infections caused by a cartilage abnormality involving the 4th-6th order subsegmental bronchi. It typically presents in infancy or childhood with symptoms of coughing, wheezing, and dyspnea. Imaging reveals normal central airways with severe bilateral cystic bronchiectasis in the subsegmental bronchi, often associated with bronchial wall thickening, mucous plugging, and bronchomalacia. During dynamic imaging, the abnormal bronchi will demonstrate ballooning on inspiratory imaging and collapse/air-trapping on expiratory imaging (summary by Marini et al., 2017).
Respiratory distress
MedGen UID:
96907
Concept ID:
C0476273
Sign or Symptom
Respiratory distress is objectively observable as the physical or emotional consequences from the experience of dyspnea. The physical presentation of respiratory distress is generally referred to as labored breathing, while the sensation of respiratory distress is called shortness of breath or dyspnea.
Recurrent upper respiratory tract infections
MedGen UID:
154380
Concept ID:
C0581381
Disease or Syndrome
An increased susceptibility to upper respiratory tract infections as manifested by a history of recurrent upper respiratory tract infections (running ears - otitis, sinusitis, pharyngitis, tonsillitis).
Tracheomalacia
MedGen UID:
215296
Concept ID:
C0948187
Disease or Syndrome
Congenital tracheomalacia is a rare condition where the trachea is soft and flexible causing the tracheal wall to collapse when exhaling, coughing or crying, that usually presents in infancy, and that is characterized by stridor and noisy breathing or upper respiratory infections. Tracheomalacia improves by the age of 18-24 months.
Recurrent lower respiratory tract infections
MedGen UID:
756211
Concept ID:
C3163798
Disease or Syndrome
An increased susceptibility to lower respiratory tract infections as manifested by a history of recurrent lower respiratory tract infections.
Neonatal respiratory distress
MedGen UID:
924182
Concept ID:
C4281993
Finding
Respiratory difficulty as newborn.
Blepharophimosis
MedGen UID:
2670
Concept ID:
C0005744
Congenital Abnormality
A fixed reduction in the vertical distance between the upper and lower eyelids with short palpebral fissures.
Carious teeth
MedGen UID:
8288
Concept ID:
C0011334
Disease or Syndrome
Caries is a multifactorial bacterial infection affecting the structure of the tooth. This term has been used to describe the presence of more than expected dental caries.
Narrow mouth
MedGen UID:
44435
Concept ID:
C0026034
Congenital Abnormality
Distance between the commissures of the mouth more than 2 SD below the mean. Alternatively, an apparently decreased width of the oral aperture (subjective).
High forehead
MedGen UID:
65991
Concept ID:
C0239676
Finding
An abnormally increased height of the forehead.
High palate
MedGen UID:
66814
Concept ID:
C0240635
Congenital Abnormality
Height of the palate more than 2 SD above the mean (objective) or palatal height at the level of the first permanent molar more than twice the height of the teeth (subjective).
Short palpebral fissure
MedGen UID:
98067
Concept ID:
C0423112
Finding
Distance between the medial and lateral canthi is more than 2 SD below the mean for age (objective); or, apparently reduced length of the palpebral fissures.
Submucous cleft hard palate
MedGen UID:
98472
Concept ID:
C0432103
Congenital Abnormality
Hard-palate submucous clefts are characterized by bony defects in the midline of the bony palate that are covered by the mucous membrane of the roof of the mouth. It may be possible to detect a submucous cleft hard palate upon palpation as a notch in the bony palate.
Epicanthus
MedGen UID:
151862
Concept ID:
C0678230
Congenital Abnormality
Epicanthus is a condition in which a fold of skin stretches from the upper to the lower eyelid, partially covering the inner canthus. Usher (1935) noted that epicanthus is a normal finding in the fetus of all races. Epicanthus also occurs in association with hereditary ptosis (110100).
Depressed nasal bridge
MedGen UID:
373112
Concept ID:
C1836542
Finding
Posterior positioning of the nasal root in relation to the overall facial profile for age.
Depressed nasal ridge
MedGen UID:
334631
Concept ID:
C1842876
Finding
Lack of prominence of the nose resulting from a posteriorly-placed nasal ridge.
Flat face
MedGen UID:
342829
Concept ID:
C1853241
Finding
Absence of concavity or convexity of the face when viewed in profile.
Midface retrusion
MedGen UID:
339938
Concept ID:
C1853242
Anatomical Abnormality
Posterior positions and/or vertical shortening of the infraorbital and perialar regions, or increased concavity of the face and/or reduced nasolabial angle.
Small face
MedGen UID:
343376
Concept ID:
C1855538
Finding
A face that is short and narrow.
Irregular dentition
MedGen UID:
347297
Concept ID:
C1856765
Finding
Long philtrum
MedGen UID:
351278
Concept ID:
C1865014
Finding
Distance between nasal base and midline upper lip vermilion border more than 2 SD above the mean. Alternatively, an apparently increased distance between nasal base and midline upper lip vermilion border.
Cleft palate
MedGen UID:
756015
Concept ID:
C2981150
Congenital Abnormality
Cleft palate is a developmental defect of the palate resulting from a failure of fusion of the palatine processes and manifesting as a separation of the roof of the mouth (soft and hard palate).
Short nail
MedGen UID:
140850
Concept ID:
C0423808
Finding
Decreased length of nail.
Pretibial dimple
MedGen UID:
331578
Concept ID:
C1833746
Finding
A groove or crease on the shins (pretibial, i.e., over the shin bone). Pretibial creases may be obvious at birth and may range from 3 cm to over 15 cm in length and lengthen as the limb grows. They appear as an elongated dimple because of the attachment of skin to underlying tissue (e.g., to the tibia). The dimple or crease grows in proportion to the growth of the leg.
Polyhydramnios
MedGen UID:
6936
Concept ID:
C0020224
Pathologic Function
The presence of excess amniotic fluid in the uterus during pregnancy.
Hypertelorism
MedGen UID:
9373
Concept ID:
C0020534
Finding
Although hypertelorism means an excessive distance between any paired organs (e.g., the nipples), the use of the word has come to be confined to ocular hypertelorism. Hypertelorism occurs as an isolated feature and is also a feature of many syndromes, e.g., Opitz G syndrome (see 300000), Greig cephalopolysyndactyly (175700), and Noonan syndrome (163950) (summary by Cohen et al., 1995).
Myopia
MedGen UID:
44558
Concept ID:
C0027092
Disease or Syndrome
Nearsightedness, also known as myopia, is an eye condition that causes blurry distance vision. People who are nearsighted have more trouble seeing things that are far away (such as when driving) than things that are close up (such as when reading or using a computer). If it is not treated with corrective lenses or surgery, nearsightedness can lead to squinting, eyestrain, headaches, and significant visual impairment.\n\nNearsightedness usually begins in childhood or adolescence. It tends to worsen with age until adulthood, when it may stop getting worse (stabilize). In some people, nearsightedness improves in later adulthood.\n\nFor normal vision, light passes through the clear cornea at the front of the eye and is focused by the lens onto the surface of the retina, which is the lining of the back of the eye that contains light-sensing cells. People who are nearsighted typically have eyeballs that are too long from front to back. As a result, light entering the eye is focused too far forward, in front of the retina instead of on its surface. It is this change that causes distant objects to appear blurry. The longer the eyeball is, the farther forward light rays will be focused and the more severely nearsighted a person will be.\n\nNearsightedness is measured by how powerful a lens must be to correct it. The standard unit of lens power is called a diopter. Negative (minus) powered lenses are used to correct nearsightedness. The more severe a person's nearsightedness, the larger the number of diopters required for correction. In an individual with nearsightedness, one eye may be more nearsighted than the other.\n\nEye doctors often refer to nearsightedness less than -5 or -6 diopters as "common myopia." Nearsightedness of -6 diopters or more is commonly called "high myopia." This distinction is important because high myopia increases a person's risk of developing other eye problems that can lead to permanent vision loss or blindness. These problems include tearing and detachment of the retina, clouding of the lens (cataract), and an eye disease called glaucoma that is usually related to increased pressure within the eye. The risk of these other eye problems increases with the severity of the nearsightedness. The term "pathological myopia" is used to describe cases in which high myopia leads to tissue damage within the eye.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVCamptomelic dysplasia

Professional guidelines

PubMed

Pinhas-Hamiel O, Zalel Y, Smith E, Mazkereth R, Aviram A, Lipitz S, Achiron R
J Clin Endocrinol Metab 2002 Oct;87(10):4547-53. doi: 10.1210/jc.2001-011034. PMID: 12364433
Thomas S, Winter RB, Lonstein JE
Spine (Phila Pa 1976) 1997 Jun 15;22(12):1330-7. doi: 10.1097/00007632-199706150-00010. PMID: 9201836

Recent clinical studies

Etiology

Lekovic GP, Rekate HL, Dickman CA, Pearson M
Childs Nerv Syst 2006 Sep;22(9):1212-4. Epub 2006 Mar 23 doi: 10.1007/s00381-006-0071-1. PMID: 16555077
Thomas S, Winter RB, Lonstein JE
Spine (Phila Pa 1976) 1997 Jun 15;22(12):1330-7. doi: 10.1097/00007632-199706150-00010. PMID: 9201836
Wasant P, Waeteekul S, Rimoin DL, Lachman RS
Southeast Asian J Trop Med Public Health 1995;26 Suppl 1:59-67. PMID: 8629144

Diagnosis

Lekovic GP, Rekate HL, Dickman CA, Pearson M
Childs Nerv Syst 2006 Sep;22(9):1212-4. Epub 2006 Mar 23 doi: 10.1007/s00381-006-0071-1. PMID: 16555077
Natasha G, Ghai R, Shah D, Kiran PS
Skeletal Radiol 2006 Sep;35(9):699-701. Epub 2005 Sep 20 doi: 10.1007/s00256-005-0922-y. PMID: 16172861
Seow KM, Huang LW, Lin YH, Pan HS, Tsai YL, Hwang JL
Arch Gynecol Obstet 2004 Jan;269(2):142-4. Epub 2002 Oct 26 doi: 10.1007/s00404-002-0401-9. PMID: 14648182
Soell J
Neonatal Netw 1999 Mar;18(2):41-8. doi: 10.1891/0730-0832.18.2.41. PMID: 10362999
Coscia MF, Bassett GS, Bowen JR, Ogilvie JW, Winter RB, Simonton SC
J Pediatr Orthop 1989 Jan-Feb;9(1):6-14. doi: 10.1097/01241398-198901000-00002. PMID: 2644305

Prognosis

Lekovic GP, Rekate HL, Dickman CA, Pearson M
Childs Nerv Syst 2006 Sep;22(9):1212-4. Epub 2006 Mar 23 doi: 10.1007/s00381-006-0071-1. PMID: 16555077
Seow KM, Huang LW, Lin YH, Pan HS, Tsai YL, Hwang JL
Arch Gynecol Obstet 2004 Jan;269(2):142-4. Epub 2002 Oct 26 doi: 10.1007/s00404-002-0401-9. PMID: 14648182
Soell J
Neonatal Netw 1999 Mar;18(2):41-8. doi: 10.1891/0730-0832.18.2.41. PMID: 10362999
Tsao PN, Teng RJ, Hwu WL, Tsou Yau KI, Wang TR
Zhonghua Min Guo Xiao Er Ke Yi Xue Hui Za Zhi 1996 Sep-Oct;37(5):381-3. PMID: 8942036

Clinical prediction guides

Pinhas-Hamiel O, Zalel Y, Smith E, Mazkereth R, Aviram A, Lipitz S, Achiron R
J Clin Endocrinol Metab 2002 Oct;87(10):4547-53. doi: 10.1210/jc.2001-011034. PMID: 12364433
Thomas S, Winter RB, Lonstein JE
Spine (Phila Pa 1976) 1997 Jun 15;22(12):1330-7. doi: 10.1097/00007632-199706150-00010. PMID: 9201836

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