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Bitemporal hollowing

MedGen UID:
343363
Concept ID:
C1855488
Finding
HPO: HP:0025386

Definition

Depression of profile in both temporal regions. [from HPO]

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVBitemporal hollowing

Conditions with this feature

Miller Dieker syndrome
MedGen UID:
78538
Concept ID:
C0265219
Disease or Syndrome
PAFAH1B1-related lissencephaly/subcortical band heterotopia (SBH) comprises a spectrum of severity. Affected newborns typically have mild-to-moderate hypotonia, feeding difficulties, and poor head control. During the first years, neurologic examination typically demonstrates poor visual tracking and response to sounds, axial hypotonia, and mild distal spasticity that can transition over time to more severe spasticity. Seizures occur in more than 90% of individuals with lissencephaly and often include infantile spasms. Seizures are often drug resistant, but even with good seizure control, the best developmental level achieved (excluding the few individuals with partial lissencephaly) is the equivalent of about age three to five months. In individuals with PAFAH1B1-related lissencephaly/SBH, developmental delay ranges from mild to severe. Other findings in PAFAH1B1-related lissencephaly/SBH include feeding issues and aspiration (which may result in need for gastrostomy tube placement), progressive microcephaly, and occasional developmental regression.
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia
MedGen UID:
1786150
Concept ID:
C5543332
Disease or Syndrome
Neurodevelopmental disorder with dysmorphic facies and cerebellar hypoplasia (NEDFACH) is an autosomal recessive disorder characterized by global developmental delay and intellectual disability. The phenotype is variable: more severely affected individuals have poor overall growth with microcephaly, delayed walking, spasticity, and poor or absent speech, whereas others may achieve more significant developmental milestones and even attend special schooling. Brain imaging shows abnormalities of the cerebellum, most commonly cerebellar hypoplasia, although other features, such as thin corpus callosum and delayed myelination, may also be present. Dysmorphic facial features include sloping forehead, upslanting palpebral fissures, and hypertelorism. Additional more variable manifestations may include cardiac ventricular septal defect, spasticity, cataracts, optic nerve hypoplasia, seizures, and joint contractures (summary by Van Bergen et al., 2020).
Developmental delay, impaired speech, and behavioral abnormalities
MedGen UID:
1794167
Concept ID:
C5561957
Disease or Syndrome
Developmental delay, impaired speech, and behavioral abnormalities (DDISBA) is characterized by global developmental delay apparent from early childhood. Intellectual disability can range from mild to severe. Additional variable features may include dysmorphic facial features, seizures, hypotonia, motor abnormalities such as Tourette syndrome or dystonia, and hearing loss (summary by Cousin et al., 2021).

Recent clinical studies

Etiology

Chocron Y, Alabdulkarim A, Gilardino MS
J Craniofac Surg 2023 May 1;34(3):959-963. Epub 2023 Jan 20 doi: 10.1097/SCS.0000000000009178. PMID: 36727933
van der Meulen JJ, Willemsen J, van der Vlugt J, Nazir PR, Hilling D, Mathijssen IM, Ongkosuwito E, van Adrichem LN, Vaandrager MJ, Hovius SE; Dutch Craniofacial Unit
J Craniofac Surg 2009 May;20(3):752-6. doi: 10.1097/SCS.0b013e3181a2e44a. PMID: 19381101

Diagnosis

Iannetti P, Schwartz CE, Dietz-Band J, Light E, Timmerman J, Chessa L
Am J Med Genet 1993 Aug 1;47(1):95-9. doi: 10.1002/ajmg.1320470120. PMID: 8368261
Dobyns WB, Curry CJ, Hoyme HE, Turlington L, Ledbetter DH
Am J Hum Genet 1991 Mar;48(3):584-94. PMID: 1671808Free PMC Article

Therapy

van der Meulen JJ, Willemsen J, van der Vlugt J, Nazir PR, Hilling D, Mathijssen IM, Ongkosuwito E, van Adrichem LN, Vaandrager MJ, Hovius SE; Dutch Craniofacial Unit
J Craniofac Surg 2009 May;20(3):752-6. doi: 10.1097/SCS.0b013e3181a2e44a. PMID: 19381101
Gosain AK
J Craniofac Surg 1997 Nov;8(6):506-11. doi: 10.1097/00001665-199711000-00017. PMID: 9477838

Prognosis

van der Meulen JJ, Willemsen J, van der Vlugt J, Nazir PR, Hilling D, Mathijssen IM, Ongkosuwito E, van Adrichem LN, Vaandrager MJ, Hovius SE; Dutch Craniofacial Unit
J Craniofac Surg 2009 May;20(3):752-6. doi: 10.1097/SCS.0b013e3181a2e44a. PMID: 19381101

Clinical prediction guides

van der Meulen JJ, Willemsen J, van der Vlugt J, Nazir PR, Hilling D, Mathijssen IM, Ongkosuwito E, van Adrichem LN, Vaandrager MJ, Hovius SE; Dutch Craniofacial Unit
J Craniofac Surg 2009 May;20(3):752-6. doi: 10.1097/SCS.0b013e3181a2e44a. PMID: 19381101

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