X-linked short stature with skin pigmentation: evidence for heterogeneity of the Russell-Silver syndrome
| Autor: | M. W. Partington |
|---|---|
| Rok vydání: | 2008 |
| Předmět: |
Adult
Male medicine.medical_specialty X Chromosome Dwarfism Russell-Silver Syndrome Short stature Facial Bones Facial dysmorphism Internal medicine Mild facial dysmorphism Genetics medicine Humans Abnormal pigmentation Child Growth Disorders Genetics (clinical) Pigmentation disorder X chromosome Aged business.industry Syndrome Middle Aged medicine.disease Dermatology Pedigree Endocrinology Child Preschool Female medicine.symptom business Pigmentation Disorders |
| Zdroj: | Clinical Genetics. 29:151-156 |
| ISSN: | 1399-0004 0009-9163 |
| DOI: | 10.1111/j.1399-0004.1986.tb01240.x |
| Popis: | A family is described with a syndrome of short stature, abnormal pigmentation of the skin and mild facial dysmorphism. The short stature and pigmentary anomalies were more marked in the males than the females. The pattern of inheritance appeared X-linked. In 2 young brothers the clinical picture mimicked that of the Russell-Silver syndrome. It is suggested that the Russell-Silver syndrome is heterogeneous and that the criteria for its diagnosis need re-evaluation. |
| Databáze: | OpenAIRE |
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