Craniofacial conodysplasia

Rodney K. Beals; Joseph H. Piatt; Jonathan Zonana

doi:10.1097/01241398-199509000-00016

Craniofacial conodysplasia

Rodney K. Beals, Joseph H. Piatt, Jonathan Zonana

Molecular & Medical Genetics

Research output: Contribution to journal › Article › peer-review

4 Scopus citations

Abstract

A family with dominant inheritance of a previously unreported syndrome of craniofacial dysplasia and cone-shaped physes of the hands and feet is described. Hydrocephalus and spinal cord compression at the craniocervical junction causes neurological complications and mimics cerebral palsy. Early diagnosis and treatment may prevent progression of neurological changes.

Original language	English (US)
Pages (from-to)	633-636
Number of pages	4
Journal	Journal of Pediatric Orthopaedics
Volume	15
Issue number	5
DOIs	https://doi.org/10.1097/01241398-199509000-00016
State	Published - Jan 1 1995

Keywords

Cerebral palsy
Cone-shaped epiphyses
Craniofacial dysplasia
Hydrocephalus
Spinal cord compression

ASJC Scopus subject areas

Pediatrics, Perinatology, and Child Health
Orthopedics and Sports Medicine

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10.1097/01241398-199509000-00016

Cite this

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title = "Craniofacial conodysplasia",

abstract = "A family with dominant inheritance of a previously unreported syndrome of craniofacial dysplasia and cone-shaped physes of the hands and feet is described. Hydrocephalus and spinal cord compression at the craniocervical junction causes neurological complications and mimics cerebral palsy. Early diagnosis and treatment may prevent progression of neurological changes.",

keywords = "Cerebral palsy, Cone-shaped epiphyses, Craniofacial dysplasia, Hydrocephalus, Spinal cord compression",

author = "Beals, {Rodney K.} and Piatt, {Joseph H.} and Jonathan Zonana",

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AU - Beals, Rodney K.

AU - Piatt, Joseph H.

AU - Zonana, Jonathan

PY - 1995/1/1

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N2 - A family with dominant inheritance of a previously unreported syndrome of craniofacial dysplasia and cone-shaped physes of the hands and feet is described. Hydrocephalus and spinal cord compression at the craniocervical junction causes neurological complications and mimics cerebral palsy. Early diagnosis and treatment may prevent progression of neurological changes.

AB - A family with dominant inheritance of a previously unreported syndrome of craniofacial dysplasia and cone-shaped physes of the hands and feet is described. Hydrocephalus and spinal cord compression at the craniocervical junction causes neurological complications and mimics cerebral palsy. Early diagnosis and treatment may prevent progression of neurological changes.

KW - Cerebral palsy

KW - Cone-shaped epiphyses

KW - Craniofacial dysplasia

KW - Hydrocephalus

KW - Spinal cord compression

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IS - 5

ER -

Craniofacial conodysplasia

Abstract

Keywords

ASJC Scopus subject areas

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