Amelia of the arms and femur/fibula deficiency with splenogonadal fusion in a child born to a consanguineous couple.
A male infant was born with symmetrical tetramelic limb deficiency consisting of bilateral upper limb amelia with severe symmetrical proximal focal femoral deficiency and fibula deficiency associated with left splenogonodal fusion of the discontinuous type, micrognathia, and a prominent capillary haemangioma of the face. The parents are first cousin Lebanese muslims. This observation suggests the possibility of recessive inheritance in some cases of the Amelia, Femur-Fibula dysostosis syndrome with or without splenogonadal fusion.
Lipson
A H
AH
Limb Deficiency Clinic, Children's Hospital, Camperdown, NSW, Sydney, Australia.
D000015:Abnormalities, Multiple / Q000235:genetics*; D003241:Consanguinity; D004480:Ectromelia / Q000235:genetics*; D005808:Genes, Recessive; D018324:Hemangioma, Capillary; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D008844:Micrognathism / Q000235:genetics; D009669:Nose Neoplasms; D013154:Spleen / Q000002:abnormalities*; D013737:Testis / Q000002:abnormalities*