Multiple congenital malformations in two sibs reminiscent of hydrolethalus and pseudotrisomy 13 syndromes

Journal Article · Mon Apr 10 00:00:00 EDT 1995 · American Journal of Medical Genetics

DOI:https://doi.org/10.1002/ajmg.1320560321· OSTI ID:105295

Dincsoy, M Y; Salih, M A.M.; Al-Jurayyan, N ^[1]

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1. King Saud Univ, Riyadh (Saudi Arabia); and others

We report on two sibs, born to consanguineous parents, with defects of the midline including cleft lip and palate, flat nose, hypotelorism, and dysgenesis of corpus callosum, in addition to short limbs, radiolucent tibial notch, digital anomalies, ambiguous genitalia, and hypopituitarism. In spite of the similarities between this condition and the hydrolethalus and pseudotrisomy 13 syndromes, our patients had neither preaxial nor postaxial polydactyly, but had previously undescribed bilateral radiolucent tibial notch, which is not known to be part of those two syndromes. The cases presented here may very well represent a new autosomal recessive syndrome. 20 refs., 4 figs., 1 tab.

• Sponsoring Organization: USDOE
• OSTI ID: 105295
• Journal Information: American Journal of Medical Genetics, Vol. 56, Issue 3; Other Information: PBD: 10 Apr 1995
• Country of Publication: United States
• Language: English

Related Subjects

55 BIOLOGY AND MEDICINE
BASIC STUDIES
PATIENTS
CONGENITAL MALFORMATIONS
PHENOTYPE
HEREDITARY DISEASES
HUMAN CHROMOSOME 13
CHROMOSOMAL ABERRATIONS
GENES
RECESSIVE MUTATIONS