Additional case of opsismodysplasia supporting autosomal recessive inheritance.
The authors describe clinical and radiological findings in a 2-year-old boy from consanguineous parents. A diagnosis of opsi(s)modysplasia (= delayed maturation) had been made (MIM 258480). The purpose of this paper is to draw attention to the striking radiological manifestations. Consanguinity in the parents of our case and occurrence in a brother and sister in a previous report support an autosomal recessive transmission.
Beemer
F A
FA
Clinical Genetics Center Utrecht, The Netherlands.
Kozlowski
K S
KS
D001848:Bone Diseases, Developmental / Q000150:complications / Q000175:diagnosis / Q000235:genetics*; D002675:Child, Preschool; D003241:Consanguinity; D005147:Facial Bones / Q000002:abnormalities; D005808:Genes, Recessive; D006801:Humans; D008297:Male; D009123:Muscle Hypotonia / Q000150:complications / Q000235:genetics; D012141:Respiratory Tract Infections / Q000209:etiology; D012886:Skull / Q000002:abnormalities