Congenital Limb Deficiency Associated with Intellectual Disability: Unusual Presentation in Two Subjects.
Congenital constriction ring (CCR) and symbrachydactyly are two distinct, rare, and heterogeneous limb deficiency conditions which affect the digits. Here, we report on two different individuals with an unusual presentation of limb deficiency accompanying intellectual disability (ID) and certain other malformations. In the first index female, CCR occurred with mild ID, squint eyes, obesity, and metatarsus adductus. The second index male was presented with symbrachydactyly, profound ID, and speech/hearing impairments. The association of limb deficiency conditions with these anomalies is very rare. Differential diagnosis and literature survey have been offered to establish the rarity of these entities.
Human Genetics Programme, Department of Animal Sciences, Quaid-i-Azam University, Islamabad.
Muhammad Ummear
MU
Raza
Human Genetics Programme, Department of Animal Sciences, Quaid-i-Azam University, Islamabad.
Waheed
W
Ullah
Human Genetics Programme, Department of Animal Sciences, Quaid-i-Azam University, Islamabad.
Sajid
S
Malik
D000293:Adolescent; D003251:Constriction, Pathologic / Q000151:congenital*; D005260:Female; D005385:Fingers / Q000002:abnormalities*; D005532:Foot Deformities, Congenital; D006801:Humans; D008607:Intellectual Disability; D017880:Limb Deformities, Congenital / Q000000981:diagnostic imaging*; D008297:Male; D013064:Speech Disorders / Q000175:diagnosis*; D014034:Toes / Q000002:abnormalities*