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1991 1
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Page 1
Jacobsen syndrome.
Mattina T, Perrotta CS, Grossfeld P. Mattina T, et al. Orphanet J Rare Dis. 2009 Mar 7;4:9. doi: 10.1186/1750-1172-4-9. Orphanet J Rare Dis. 2009. PMID: 19267933 Free PMC article. Review.
The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial dysmorphism (skull deformities, hypertelorism, ptosis, coloboma, downslanting palpebral fissures, epicanthal folds, broad nasal bridge, sho …
The most common clinical features include pre- and postnatal physical growth retardation, psychomotor retardation, and characteristic facial …
Noonan syndrome.
van der Burgt I. van der Burgt I. Orphanet J Rare Dis. 2007 Jan 14;2:4. doi: 10.1186/1750-1172-2-4. Orphanet J Rare Dis. 2007. PMID: 17222357 Free PMC article. Review.
The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated ears with a thickened helix. The cardiovascular defects most commonly associated with this condition are pulmonary stenosis and hype …
The main facial features of NS are hypertelorism with down-slanting palpebral fissures, ptosis and low-set posteriorly rotated …
TMCO1 deficiency causes autosomal recessive cerebrofaciothoracic dysplasia.
Alanay Y, Ergüner B, Utine E, Haçariz O, Kiper PO, Taşkıran EZ, Perçin F, Uz E, Sağiroğlu MŞ, Yuksel B, Boduroglu K, Akarsu NA. Alanay Y, et al. Am J Med Genet A. 2014 Feb;164A(2):291-304. doi: 10.1002/ajmg.a.36248. Epub 2013 Nov 5. Am J Med Genet A. 2014. PMID: 24194475 Review.
The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia of corpus callosum, enlargement of septum pellicidum, and diffuse hypodensity of the grey matter, flat face, hypertelorism, cleft lip and cle …
The characteristic features are cranial involvement with macrocrania at birth, brachycephaly, various CT/MRI findings including hypoplasia o …
Antenatal diagnosis of cardio-facio-cutaneous syndrome: Prenatal characteristics and contribution of fetal facial dysmorphic signs in utero. About a case and review of literature.
Biard JM, Steenhaut P, Bernard P, Race V, Sznajer Y. Biard JM, et al. Eur J Obstet Gynecol Reprod Biol. 2019 Sep;240:232-241. doi: 10.1016/j.ejogrb.2019.06.035. Epub 2019 Jul 16. Eur J Obstet Gynecol Reprod Biol. 2019. PMID: 31336229 Review.
The current case report underlines the characteristic dysmorphic facial features on 3D-ultrasound (hypertelorism, down-slanting palpebral fissures, a long and marked philtrum, and low-set posteriorly rotated ears) that allow for a "RASopathy" to be postulated …
The current case report underlines the characteristic dysmorphic facial features on 3D-ultrasound (hypertelorism, down-slanting palpebral fi …
Tricho-hepato-enteric syndrome (THE-S): two cases and review of the literature.
Chong JH, Jamuar SS, Ong C, Thoon KC, Tan ES, Lai A, Aan MK, Tan WL, Foo R, Tan EC, Lau YL, Liew WK. Chong JH, et al. Eur J Pediatr. 2015 Oct;174(10):1405-11. doi: 10.1007/s00431-015-2563-z. Epub 2015 May 15. Eur J Pediatr. 2015. PMID: 25976726 Review.
Both cases presented with chronic diarrhea, failure to thrive, and recurrent infections. Case 1 had posteriorly rotated low set ears, mild retrognathia, and fine curly hypopigmented hair. ...
Both cases presented with chronic diarrhea, failure to thrive, and recurrent infections. Case 1 had posteriorly rotated low se …
Skin manifestations of cardio-facio-cutaneous syndrome.
Borradori L, Blanchet-Bardon C. Borradori L, et al. J Am Acad Dermatol. 1993 May;28(5 Pt 2):815-9. doi: 10.1016/0190-9622(93)70108-6. J Am Acad Dermatol. 1993. PMID: 8491871 Review.
Our two patients had many of the cardinal features of the disorder: a peculiar craniofacial appearance with sparse curly hair, low-set posteriorly rotated ears, moderate to severe mental retardation, heart defects, and cutaneous abnormalities such as ichthyos …
Our two patients had many of the cardinal features of the disorder: a peculiar craniofacial appearance with sparse curly hair, low-set po …
The "facelift" flap for reconstruction of cheek, lateral orbit, and temple defects.
Flynn TC, McDonald WS, Chastain MA. Flynn TC, et al. Dermatol Surg. 1999 Nov;25(11):836-43. doi: 10.1046/j.1524-4725.1999.99030.x. Dermatol Surg. 1999. PMID: 10594594 Review.
OBJECTIVE: The facelift flap is a large advancement flap with a rotational component based on rhytidectomy principles. METHODS: Redundant skin from the lower cheek is used as the donor tissue, which is advanced cephalad and posteriorly. Flap design varies slightly f …
OBJECTIVE: The facelift flap is a large advancement flap with a rotational component based on rhytidectomy principles. METHODS: Redun …
The cardio-facio-cutaneous syndrome: report of a patient and review of the literature.
Bottani A, Hammerer I, Schinzel A. Bottani A, et al. Eur J Pediatr. 1991 May;150(7):486-8. doi: 10.1007/BF01958429. Eur J Pediatr. 1991. PMID: 1915501 Review.
She presented the typical combination of mild developmental delay, postnatal onset short stature with relative macrocephaly, a wide and prominent forehead with posteriorly rotated ears and down-slanting palpebral fissures, an atrial septal defect, and ectoder …
She presented the typical combination of mild developmental delay, postnatal onset short stature with relative macrocephaly, a wide and prom …
Duplication of 5q15-q23.2: case report and literature review.
Douyard J, Hawley P, Shaham M, Kimonis V. Douyard J, et al. Birth Defects Res A Clin Mol Teratol. 2006 Apr;76(4):272-6. doi: 10.1002/bdra.20244. Birth Defects Res A Clin Mol Teratol. 2006. PMID: 16602097 Review.
She has moderate developmental delay with lack of speech, microcephaly, and subtle dysmorphic features including prominent forehead, bulbous nose, epicanthic folds, protruding tongue, and slightly posteriorly-rotated ears. CONCLUSIONS: A comparison is made wi …
She has moderate developmental delay with lack of speech, microcephaly, and subtle dysmorphic features including prominent forehead, bulbous …
Cutaneous manifestations in the cardiofaciocutaneous syndrome, a variant of the classical Noonan syndrome. Report of a case and review of the literature.
Weiss G, Confino Y, Shemer A, Trau H. Weiss G, et al. J Eur Acad Dermatol Venereol. 2004 May;18(3):324-7. doi: 10.1111/j.1468-3083.2004.00365.x. J Eur Acad Dermatol Venereol. 2004. PMID: 15096145 Review.
He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread keratosis pilaris, a peculiar craniofacial appearance with sparse, curly hair and low-set posteriorly rotated ears; congeni …
He presented with clinical findings characteristic of this condition such as: cutaneous abnormalities, including ichthyosis, widespread kera …
13 results