Lipson A H
Limb Deficiency Clinic, Children's Hospital, Camperdown, NSW, Sydney, Australia.
Am J Med Genet. 1995 Jan 30;55(3):265-8. doi: 10.1002/ajmg.1320550304.
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.
一名男婴出生时患有对称性四肢缺如，表现为双侧上肢无肢畸形，伴有严重的对称性近端股骨局灶性缺如和腓骨缺如，同时伴有左侧间断型脾性腺融合、小颌畸形以及面部明显的毛细血管瘤。患儿父母是黎巴嫩穆斯林近亲。该病例提示，在某些伴有或不伴有脾性腺融合的无肢畸形、股骨-腓骨发育不全综合征病例中，可能存在隐性遗传。
