Ohdo S, Madokoro H, Sonoda T, Takei M, Yasuda H, Mori N
Department of Pediatrics, Miyazaki Medical College, Japan.
J Med Genet. 1987 Oct;24(10):609-12. doi: 10.1136/jmg.24.10.609.
A male child with tetra-amelia, hypotrichosis, upward slanting palpebral fissures, lack of lacrimal openings, hypoplastic lacrimal ducts and sacs opening towards the exterior, prominent and bulbous nose, large downturned mouth, high narrow palate, bilateral preauricular pits, sacral dimple, bilateral undescended testes, and developmental retardation is reported. The parents were second cousins. His karyotype on cultured blood lymphocytes was normal. Since the next fetus conceived by the mother was found on prenatal ultrasonography to have no limbs, abortion was induced. The face of the abortus closely resembled that of the proband. It is postulated that this malformation syndrome was due to the homozygous state of a rare autosomal recessive mutation.
报告了一名患有四肢缺如、毛发稀少、睑裂向上倾斜、无泪点、泪道和泪囊发育不全且向外开口、鼻子突出呈球根状、嘴巴大且向下弯曲、腭高而窄、双侧耳前凹、骶部酒窝、双侧隐睾以及发育迟缓的男童。父母为二级亲属。其培养的血液淋巴细胞的核型正常。由于母亲怀上的下一胎儿经产前超声检查发现没有四肢，遂引产。流产胎儿的面部与先证者极为相似。据推测，这种畸形综合征是由一种罕见的常染色体隐性突变的纯合状态所致。
