X-linked skeletal dysplasia-intellectual disability syndrome

Skeletal dysplasia-intellectual disability syndrome combines skeletal anomalies (short stature, ridging of the metopic suture, fusion of cervical vertebrae, thoracic hemivertebrae, scoliosis, sacral hypoplasia and short middle phalanges) and mild intellectual deficit. It has been described in four male cousins in three sibships. Glucose intolerance was present in three cases, and imperforated anus in one case. Carrier females had minor manifestations (fusion of cervical vertebrae and glucose intolerance). Transmission seems to be X-linked.

Histiocytosis

An excessive number of histiocytes (tissue macrophages).

Total: 2

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PMID (PMCID)
15205093	MIXED_SAMPLE	Infant
	Langerhans cells histiocytosis in one family.
	Shahla A, Parvaneh V, Hossein HD. Pediatr Hematol Oncol. 2004;21(4):313-20.
	Histiocytosis of Langerhans cells (class 1 histiocytosis) includes a range of clinical manifestations that have been described as bone eosinophilic granuloma, Hand-Schuller-Christian syndrome, and Letterer-Siwe diseases.
8087220	FEMALE	Infant
	[Langerhans-cell histiocytosis in twin sisters].
	Kanold J, Vannier JP, Fusade T, Drouin V, Thomine E, Prudent M, Tron P. Arch Pediatr. 1994;1(1):49-53.
	BACKGROUND--Histiocytosis of Langerhans cells includes a range of clinical manifestations that have been described as bone eosinophilic granuloma, Hand-Schuller-Christian syndrome, Letterer-Siwe syndrome and Hashimoto-Pritzker histiocytosis.