Nishimura G, Harigaya A, Kuwashima M, Kuwashima S
Department of Radiology, Dokkyo University School of Medicine, Tochigi, Shimotsuga-gun, Japan.
Am J Med Genet. 1997 Jul 11;71(1):87-92.
The heterogeneous group of craniotubular dysplasias is characterized by modeling errors of the craniofacial and tubular bones. Some conditions in this category cause not only skeletal abnormalities but also a variety of mesoectodermal dysplasias, as exemplified in Lenz-Majewski syndrome (MIM 151050), which comprises craniodiaphyseal dysplasia, failure to thrive, mental retardation, proximal symphalangism, enamel hypoplasia, and loose skin. We report on a boy with a hitherto unknown multisystem disorder, including skeletal changes that were regarded as a form of craniotubular dysplasia. The patient had a large head, exophthalmos, a broad nasal root, anteverted nostrils, large auricles, thick lips, micrognathia, severe postnatal growth retardation with emaciation, severe mental retardation, sparse hair growth, enamel hypoplasia, and thin, loose skin with hyperlaxity. Skeletal changes consisted of thickened calvaria, sclerosis of the skull base and facial bones, thick ribs, and metaphyseal undermodeling of the tubular bones. In addition, generalized osteopenia was evident. The present disorder overlaps phenotypically with Lenz-Majewski syndrome; nevertheless, the absence of diaphyseal hyperostosis and proximal symphalangism in the present patient was not consistent with Lenz-Majewski syndrome.
颅管发育异常这一异质性疾病组的特征是颅面骨和管状骨的塑形错误。该类别中的一些病症不仅会导致骨骼异常，还会引发多种中胚层外胚层发育异常，例如Lenz-Majewski综合征（MIM 151050），其包括颅骨干发育异常、生长发育迟缓、智力障碍、近端指（趾）关节强直、牙釉质发育不全和皮肤松弛。我们报告了一名患有此前未知的多系统疾病的男孩，其骨骼变化被认为是颅管发育异常的一种形式。该患者头部较大、眼球突出、鼻根宽阔、鼻孔前倾、耳廓较大、嘴唇肥厚、小颌畸形、出生后严重生长发育迟缓并伴有消瘦、严重智力障碍、毛发稀疏、牙釉质发育不全以及皮肤薄且松弛并伴有过度松弛。骨骼变化包括颅骨增厚、颅底和面部骨骼硬化、肋骨增粗以及管状骨干骺端塑形不足。此外，全身性骨质减少明显。目前的病症在表型上与Lenz-Majewski综合征重叠；然而，该患者不存在骨干骨质增生和近端指（趾）关节强直，这与Lenz-Majewski综合征不一致。
