Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0034067 (emphysema)
 11,506 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

The clinical features of an 8-year-old boy with congenital emphysema, cryptorchidism, a penoscrotal web, deafness, constipation and mental retardation are described. Review of the literature did not reveal another report of this unusual combination of features.
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PMID:Congenital emphysema, cryptorchidism, penoscrotal web, deafness, and mental retardation--a new syndrome? 901 16

Keutel syndrome (KS) [OMIM 245150] is an autosomal recessive hereditary syndrome characterized by multiple peripheral pulmonary stenoses (PPS), brachytelephalangia, inner ear deafness, and abnormal cartilage ossification or calcification. Mutations in the matrix Gla protein (MGP) gene have been reported in different unrelated families with KS previously. MGP is an extracellular matrix protein and calcification inhibitor; mutations in its encoding gene result in cartilage ossification or calcification, the main presenting feature of KS. This report describes the findings of four sisters with KS born to consanguineous parents were followed for 26 years in an irregular fashion. During follow-up of the patients over the years the complications appear to be mostly involving the respiratory system. Permanent skin rashes, papillary microcarcinoma of the thyroid, asthma, massive bullous pulmonary emphysema, severe systemic arterial hypertension, and short term memory loss were observed during long term follow-up. The fertility status of the patients were also observed and infertility was observed in one of three married patients.
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PMID:Long term follow-up of four patients with Keutel syndrome. 2512 78