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.

Panniculitis

Inflammation of adipose tissue.

Total: 7

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PMID (PMCID)
15738595	MALE
	[5- year old boy with Weber-Christian Syndrome or histiocytic cytophagic panniculitis? Diagnostic difficulties. Case presentation].
	Raciborska A, Gadomski A, Wypych A, Maldyk J, Gutowska-Grzegorczyk G. Med Wieku Rozwoj. 2004;8(2 Pt 1):201-8.
	[5- year old boy with Weber-Christian Syndrome or histiocytic cytophagic panniculitis?
15188638	FEMALE
	[Successful treatment of Weber-Christian panniculitis with cyclosporin-A].
	Kovacs M, Hafner J, Gabor V, Sipos J. Orv Hetil. 2004;145(15):827-31.
	The authors demonstrate a rare type of the panniculitis, the Weber-Christian syndrome.
9545177	MIXED_SAMPLE	Child
	Panniculitis due to potassium bromide.
	Diener W, Sorni M, Ruile S, Rude P, Kruse R, Becker E, Bork K, Berg PA. Brain Dev. 1998;20(2):83-7.
	Rare side effects on the skin reappeared, such as the febrile nodular panniculitis (Weber-Christian syndrome).
3540296	MALE	Adult
	[Weber-Christian syndrome and pancreatic involvement. Apropos of a case with review of the literature].
	Legmann P, Beaule V, Levesque M, Vilde JL, Leport J, Cerf M. J Radiol. 1986;67(8-9):625-30.
	The Weber-Christian syndrome associates generalized nodular inflammatory panniculitis with osteoarticular manifestations.
3989012	MIXED_SAMPLE	Infant, Newborn
	Fatal panniculitis.
	Aronson IK, West DP, Variakojis D, Malkinson FD, Wilson HD, Zeitz HJ. J Am Acad Dermatol. 1985;12(3):535-51.
	The Weber-Christian syndrome (relapsing nodular panniculitis) displays a clinical spectrum varying from short, self-limited, or intermittent disease episodes to persistent disease with fatal outcome.
7424198	FEMALE	Middle Aged
	[Fatal course of a fungal pneumonia in glucocorticoid-treated recurrent febrile nodular panniculitis; Pfeifer-Weber-Christian syndrome].
	Lehnert M, Hofler H, Kerl H, Schmid P. Z Rheumatol. 1980;39(1-2):46-53.
	[Fatal course of a fungal pneumonia in glucocorticoid-treated recurrent febrile nodular panniculitis; Pfeifer-Weber-Christian syndrome].
871084	MALE	Adult
	An unusual case which began with subcutaneous panniculitis followed by fever, severe hepatic involvement and hyperlipidemia.
	Miyasaki K, Ooiso Y, Nakamura I, Oimomi M, Tai T, Saito K. Acta Pathol Jpn. 1977;27(2):213-24.
	A 25-year-old man was at first dermatologically suspected as suffering from Weber-Christian syndrome because of subcutaneous panniculitis, but his skin lesions disappeared completely during the course.