Stoll C, Alembik Y, Steib J P, De Saint-Martin A
Institut de Puériculture et Pédiatrie I, Centre Hospitalo-Universitaire, Strasbourg.
Genet Couns. 1993;4(2):119-26.
Twelve patients with hemihypertrophy are described. All but one are sporadic cases. The parents were unrelated. Family and pregnancy histories are otherwise unremarkable in all cases. Diagnosis was always performed at birth or in the weeks following birth. There were 5 boys and 7 girls including one mother and her daughter. Hemihypertrophy was localized to the upper limb in one case and to the lower limb in one case. One patient had some features of Mc Cune Albright syndrome. Hemihypertrophy was associated with Silver-Russel syndrome in two patients. In all other cases hemihypertrophy was idiopathic. Mental and motor development were normal in all cases, as was puberty. During growth the body asymmetry was unchanged. Orthopedic problems complicated growth in some cases. The most obvious of these problems was scoliosis. Limb lengthening was necessary in 2 cases. One of our patients developed an abdominal tumor. One of our patients had two normal children. Hemihypertrophy is usually not inherited. However, the mother of one of our patients also had hemihypertrophy.
本文描述了12例半身肥大患者。除1例为家族性病例外，其余均为散发病例，患者父母无血缘关系。所有病例的家族史和妊娠史均无异常。诊断均在出生时或出生后数周内进行。患者包括5名男孩和7名女孩，其中有一对母女。1例患者半身肥大局限于上肢，1例局限于下肢。1例患者具有McCune-Albright综合征的某些特征。2例患者的半身肥大与Silver-Russel综合征相关。在所有其他病例中，半身肥大是特发性的。所有病例的智力和运动发育均正常，青春期发育也正常。在生长过程中，身体不对称情况没有变化。在某些病例中，骨科问题使生长复杂化，其中最明显的问题是脊柱侧弯。2例患者需要进行肢体延长手术。我们的1例患者发生了腹部肿瘤。我们的1例患者育有2名正常子女。半身肥大通常不具有遗传性。然而，我们的1例患者的母亲也患有半身肥大。
