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Child's Nervous System

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01-09-2006 | Case Report

Congenital cervical instability in a patient with camptomelic dysplasia

Authors: Gregory P. Lekovic, Harold L. Rekate, Curtis A. Dickman, Margaret Pearson

Published in: Child's Nervous System | Issue 9/2006

Abstract

Introduction

Camptomelic dysplasia (CD) is a rare autosomal dominant skeletal dysplasia classically characterized by bent bones of the extremities, tracheobronchial narrowing, thoracic kyphoscoliosis, and various degrees of phenotypic sex reversal. Most patients die of complications in infancy, although long-term survivors have been reported.

Case report

We report a case of CD complicated by incomplete ossification of the cervical vertebral pedicles, resulting in congenital cervical instability and kyphosis. Closed reduction was performed, and the patient was fitted with a customized cervical orthosis.

Finding

He subsequently developed a complete spinal cord injury at the kyphotic level. This underscores the grim prognosis associated with neonatal cervical spinal instability.

Bi W, Deng JM, Zhang Z, Behringer RR, de Crombrugghe B (1999) Sox9 is required for cartilage formation. Nat Genet 22:85–89CrossRefPubMed

Coscia MF, Bassett GS, Bowen JR, Ogilvie JW, Winter RB, Simonton SC (1989) Spinal abnormalities in camptomelic dysplasia. J Pediatr Orthop 9:6–14PubMed

Lefebvre V, Behringer RR, de Crombrugghe B (2001) L-Sox5, Sox6 and Sox9 control essential steps of the chondrocyte differentiation pathway. Osteoarthritis Cartilage 9(Suppl A):S69–S75CrossRefPubMed

Mansour S, Offiah AC, McDowall S, Sim P, Tolmie J, Hall C (2002) The phenotype of survivors of campomelic dysplasia. J Med Genet 39:597–602CrossRefPubMed

Normann EK, Pedersen JC, Stiris G, van der Hagen CB (1993) Campomelic dysplasia—an underdiagnosed condition? Eur J Pediatr 152:331–333CrossRefPubMed

Savarirayan R, Robertson SP, Bankier A, Rogers JG (2003) Variable expression of campomelic dysplasia in a father and his 46, XY daughter. Pediatr Pathol Mol Med 22:37–46CrossRefPubMed

Thomas S, Winter RB, Lonstein JE (1997) The treatment of progressive kyphoscoliosis in camptomelic dysplasia. Spine 22:1330–1337CrossRefPubMed

Winter RB, Moe JH (1982) The results of spinal arthrodesis for congenital spinal deformity in patients younger than five years old. J Bone Joint Surg Am 64:419–432PubMed

Title: Congenital cervical instability in a patient with camptomelic dysplasia
Authors: Gregory P. Lekovic
Harold L. Rekate
Curtis A. Dickman
Margaret Pearson
Publication date: 01-09-2006
Publisher: Springer-Verlag
Published in: Child's Nervous System / Issue 9/2006
Print ISSN: 0256-7040
Electronic ISSN: 1433-0350
DOI: https://doi.org/10.1007/s00381-006-0071-1

At a glance: The STEP trials

Springer Medicine

Congenital cervical instability in a patient with camptomelic dysplasia

Abstract

Introduction

Case report

Finding

At a glance: The STEP trials

Springer Medicine

Abstract

Introduction

Case report

Finding

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