Syndrome of infantile osteopetrosis and Hirschsprung disease in seven children born to four consanguineous unions in two families
| Autor: | Annie Rambaud-Cousson, Anwar Dudin |
|---|---|
| Rok vydání: | 1993 |
| Předmět: |
Male
medicine.medical_specialty medicine.medical_treatment Consanguinity Meconium Internal medicine Biopsy medicine Humans Hirschsprung Disease Genetics (clinical) Megacolon medicine.diagnostic_test business.industry Infant Newborn Colostomy Infant Osteopetrosis Syndrome medicine.disease Osteochondrodysplasia Pedigree Surgery Skull Endocrinology medicine.anatomical_structure Child Preschool Vomiting Female medicine.symptom business |
| Zdroj: | American Journal of Medical Genetics. 47:1083-1085 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320470730 |
| Popis: | He was admitted to hospital for vomiting, abdominal distention, and failure to pass meconium on the 4th day of life. Rectal biopsy showed no ganglion cells and emergency colostomy was done in a healthy area, after frozen sec- tion biopsy results. Roentgenographic alterations were noted in skull, ribs, and metaphyses and epiphyses of long bones. Bone biopsy confirmed OP. The family re- fused neurosurgical treatment. The patient became blind and died at home at 9 months of febrile illness. |
| Databáze: | OpenAIRE |
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