Puvabanditsin S, February M, Stefano V D, Vinod S, Minerowicz C, Hussein K, Mayne J, Mehta R
Genet Couns. 2016;27(2):149-57.
Osteocraniosplenic syndrome-hypomineralized skull with gracile long bones and splenic hypoplasia: a case report and literature review: We report herein an intrauterine growth-restricted preterm nwonate with a lethal bone dysplasia characterized by severe hypomineralization of the skull, absent medullary lucency flared metaphyses fishbone-like diaphysis and overtubulated long vones. Dysmorphic features included flat facies, bulging forehead, vevus flammeus, depressed nasas bridge, short philtrum, inverted U-shape mouth, mild micrometic dwarfism, and brachydactyly. The infant's lungs and spleen were hypoplastic. The findings are compatible with the 19 previously reported cases that used different terminology: osteocraniostenosis, gracile bone disorders and osteocraniosplenic syndrome. We present the clinical, pathological and cytogenetic findings of this rare disorder.
骨颅骨脾综合征——颅骨矿化不足伴纤细长骨和脾发育不全：一例报告及文献复习：我们在此报告一例宫内生长受限的早产新生儿，患有致死性骨发育异常，其特征为颅骨严重矿化不足、髓腔透亮区缺失、干骺端增宽呈鱼骨样骨干以及长骨过度管状化。畸形特征包括面容扁平、前额隆起、鲜红斑痣、鼻梁凹陷、人中短、口呈倒U形、轻度短肢侏儒症和短指畸形。婴儿的肺和脾发育不全。这些发现与先前报道的19例使用不同术语的病例相符：骨颅骨狭窄症、纤细骨疾病和骨颅骨脾综合征。我们展示了这种罕见疾病的临床、病理和细胞遗传学发现。
