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.

Leukocytosis

An abnormal increase in the number of leukocytes in the blood.

Total: 1

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PMID (PMCID)
3725481	MALE	Child
	Ten-year course of early-onset Weber-Christian syndrome with recurrent pneumonia: a suggestion for pathogenesis.
	Sorensen RU, Abramowsky CR, Stern RC. Pediatrics. 1986;78(1):115-20.
	The persistent leukocytosis (even during remission), the recurrent episodes of fever with associated increase in the acute phase reactants, and the failure of the nonsteroidal anti-inflammatory drugs leads us to propose that this form of Weber-Christian syndrome reflects an inborn error in the regulation of the inflammatory response.