Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome

L I al-Gazali; M Bakir; M R Sadaghatian; R Nath; D Haas

Anterior segment anomalies of the eye associated with multiple skeletal abnormalities and early lethality: confirmation of an autosomal recessive syndrome

Clin Dysmorphol. 1999 Apr;8(2):87-92.

Authors

L I al-Gazali¹, M Bakir, M R Sadaghatian, R Nath, D Haas

Affiliation

¹ Department of Paediatrics, Al Ain Hospital Al Ain.

PMID: 10319196

Abstract

We report two sibs from a complexly consanguineous family with joint contractures, skeletal abnormalities, anterior segment anomalies of the eye and early lethality. The features of these sibs are similar to the features of the sibs reported by Al-Gazali et al. (Clin Dysmorphol 3: 238-244, 1994). This report confirms the identity of this new autosomal recessive syndrome.

Publication types

Case Reports

MeSH terms

Abnormalities, Multiple / genetics*
Anterior Eye Segment / abnormalities*
Bone and Bones / abnormalities*
Female
Genes, Recessive*
Humans
Infant, Newborn
Male
Pedigree
Syndrome