Melnick-needles syndrome in males: A lethal multiple congenital anomalies syndrome
| Autor: | Elaine H. Zackai, Patricia Borns, Alan E. Donnenfeld, Katrina Conard, James F. Reynolds, John M. Opitz, Nancy S. Roberts |
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| Rok vydání: | 1987 |
| Předmět: |
Adult
Heart Defects Congenital Male X Chromosome Genetic Linkage Biology Osteochondrodysplasias Autosomal recessive trait Pregnancy Prenatal Diagnosis medicine Humans Prune Belly Syndrome Atrioventricular canal defect Genetics (clinical) Genes Dominant Tetralogy of Fallot Omphalocele Megacystis Anatomy medicine.disease Hypoplasia Pedigree Atresia Melnick–Needles syndrome Female Genes Lethal |
| Zdroj: | American Journal of Medical Genetics. 27:159-173 |
| ISSN: | 1096-8628 0148-7299 |
| DOI: | 10.1002/ajmg.1320270117 |
| Popis: | A male fetus with decreased calvarial mineralization and suspected omphalocele was identified prenatally in a woman with oligohydramnios and Melnick-Needles syndrome (MNS). At autopsy, exophthalmos, prune belly sequence with urethal atresia and megacystis, tetralogy of Fallot, atrioventricular canal defect, and complete malrotation of the gut were identified. Mandibular hypoplasia and delicate, bowed, irregular, long bones and ribs with widening and deep cupping of the metaphyses were found radiographically. In addition, we review 3 previously reported cases of males with similar, lethal malformations, all born to mothers with MNS. It is our conclusion that these anomalies characterize the male MNS phenotype. A review of all reported viable individuals with MNS identified 2 distinct entities: a mild form found only in females, compatible with normal life expectancy in most cases and inherited in an X-linked dominant male lethal or sex limited autosomal dominant pattern, and a different, more severe disorder, termed precocious osteodysplasty, found in both males and females and inherited as an autosomal recessive trait. |
| Databáze: | OpenAIRE |
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