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Familial occurrence of malformations possibly attributable to vascular abnormalities

1986; Elsevier BV; Volume: 108; Issue: 1 Linguagem: Inglês

10.1016/s0022-3476(86)80783-1

1097-6833

Hubert C. Soltan, Lewis B. Holmes,

Craniofacial Disorders and Treatments

The Poland a n o m a l y / t e r m i n a l transverse forearm amputations, 2 and hemifacial microsomia 3 have been attributed to underlying vascular abnormalities, although the Poland anomaly 4 and limb amputations 5-6a may occur among close relatives. We report a family in which the Poland anomaly (absence of the pectoralis major only), omphalocele, microtia, and unilateral terminal transverse hemimelia occurred in different members of two sets of siblings who are first cousins. A first cousin once removed also had unilateral terminal transverse hemimelia. These findings suggests a familial clustering of a common factor, such as a vascular abnormality, that may have resulted in the occurrence of these different malformations in relatives.