Pre- and postnatal growth retardation, scaling skin, moderate mental retardation and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly. A distinct MCA/MR syndrome?

J. P. Fryns, L. Lagae, William B Rizzo

Research output: Contribution to journalArticle

Abstract

We report a moderately mentally retarded 7-year-old male with a unique combination of clinical symptoms and signs: severe pre- and postnatal growth retardation, scaling skin and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly type B on the right hand. Normal fibroblast enzyme activities of fatty aldehyde dehydrogenase and NADPH cytochrome C reductase were not consistent with the diagnosis of Sjogren- Larsson syndrome. The nosology of 'bird-headed' dwarfism is briefly discussed.

Original languageEnglish (US)
Pages (from-to)275-277
Number of pages3
JournalClinical Dysmorphology
Volume7
Issue number4
DOIs
StatePublished - Jan 1 1998
Externally publishedYes

Fingerprint

long-chain-aldehyde dehydrogenase
Sjogren-Larsson Syndrome
Cytochrome Reductases
Nephrosis
Hypospadias
Mentally Disabled Persons
NADP
Intellectual Disability
Signs and Symptoms
Hand
Fibroblasts
Skin
Enzymes
Growth
Postaxial Polydactyly
Seckel syndrome 1

Keywords

  • Hypospadias
  • Ichthyosis
  • Postaxial polydactyly
  • Pre- and postnatal growth retardation

ASJC Scopus subject areas

  • Pediatrics, Perinatology, and Child Health
  • Anatomy
  • Pathology and Forensic Medicine
  • Genetics(clinical)

Cite this

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AB - We report a moderately mentally retarded 7-year-old male with a unique combination of clinical symptoms and signs: severe pre- and postnatal growth retardation, scaling skin and quadrispasticity, hypospadias grade 2 and hydro-uretero nephrosis, postaxial polydactyly type B on the right hand. Normal fibroblast enzyme activities of fatty aldehyde dehydrogenase and NADPH cytochrome C reductase were not consistent with the diagnosis of Sjogren- Larsson syndrome. The nosology of 'bird-headed' dwarfism is briefly discussed.

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