Carnevale A, del Castillo V, Sotillo A G, Larrondo J
Clin Genet. 1976 Sep;10(3):135-8. doi: 10.1111/j.1399-0004.1976.tb00025.x.
A family is described with the following features: 1) Two propositi, a male and a female, with congenital absence of gluteal muscles and with spina bifida occulta. 2) Both parents and two apparently normal siblings with sacral spina bifida occulta. 3) Two siblings of the propositi who died soon after birth, one with anencephaly and the other with a probable spina bifida. Two alternative hypotheses for the etiology of these malformations are suggested: first, the muscular defect could be caused by an autosomal recessive gene independent of the open neural-tube defects; second, both types of malformations could be due to the same autosomal recessive gene. Then compensatory muscular changes which allow the propositi to walk are discussed.
1）两名先证者，一男一女，先天性臀肌缺失且伴有隐性脊柱裂。2）父母双方以及两名外表正常的同胞均患有隐性骶椎脊柱裂。3）先证者的两名同胞出生后不久死亡，一个患有无脑畸形，另一个可能患有脊柱裂。针对这些畸形的病因提出了两种备选假说：第一，肌肉缺陷可能由一个与开放性神经管缺陷无关的常染色体隐性基因引起；第二，两种类型的畸形可能归因于同一个常染色体隐性基因。然后讨论了使先证者能够行走的代偿性肌肉变化。
