Syndrome of mental retardation and distal arthrogryposis in sibs.
Two sisters presented with a syndrome of characteristic facial anomalies and distal arthrogryposis. The older sister is now 4 years old and is severely mentally retarded. Her sister died of respiratory failure due to hypoplastic lungs shortly after birth. The occurrence of this potentially lethal syndrome in 2 sisters with unaffected parents suggests autosomal recessive inheritance.
Chitayat
D
D
Department of Pediatrics, Montreal Children's Hospital, Quebec, Canada.
Hodgkinson
K A
KA
Blaichman
S
S
Chen
M E
ME
Watters
G V
GV
Khalife
S
S
Hall
J G
JG
D001176:Arthrogryposis; D002490:Central Nervous System / Q000002:abnormalities; D003286:Contracture / Q000151:congenital; D005145:Face / Q000002:abnormalities; D005260:Female; D005808:Genes, Recessive / Q000235:genetics; D006801:Humans; D008607:Intellectual Disability; D011296:Prenatal Diagnosis; D013577:Syndrome