Costello syndrome: further clinical delineation, natural history, genetic definition, and nosology
| Autor: | Giovanni Neri, Pierpaolo Mastroiacovo, Giuseppe Zampino, Marcella Zollino, Giuseppe Segni, Maria Enrica Martini-Neri, Roberta Ricci |
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| Jazyk: | angličtina |
| Rok vydání: | 1993 |
| Předmět: |
Nosology
Male Foot Deformities medicine.medical_specialty Foot Deformities Congenital Cardiomyopathy Dwarfism Genes Recessive Congenital Costello syndrome Keratoderma Palmoplantar Internal medicine Intellectual Disability Intellectual disability medicine Humans Recessive Abnormalities Multiple Poor postnatal growth Genetics (clinical) Papilloma Coarse face Infant Newborn Palmoplantar Infant Physiognomy Skin abnormality Syndrome Cardiomyopathy Hypertrophic Hand Deformities medicine.disease Newborn Curly hair Dermatology Natural history Keratoderma Endocrinology Genes Settore MED/38 - PEDIATRIA GENERALE E SPECIALISTICA Hypertrophic Face Skin Abnormalities Abnormalities Psychology Hand Deformities Congenital Multiple Hair |
| Popis: | In 1977 Costello described two unrelated children with poor postnatal growth, mental retardation, curly hair, coarse face of similar appearance, and nasal papillomata, suggesting the existence of a previously undescribed syndrome of uncertain familial nature [Costello, Aust Paediatr J 13: 114-118, 1977]. The existence of this syndrome as a separate entity was substantiated several years later by two additional reports by Der Kaloustian et al. [Am J Med Genet 43:678-685, 1991] and Martin and Jones [Am J Med Genet 41:346-349, 1991]. More recently Borochowitz et al. [Am J Med Genet 43:678-685, 1992] described a new "multiple congenital anomalies/mental retardation syndrome with facio-cutaneous-skeletal involvement." Whether this condition should be considered separately from the Costello syndrome is currently a matter of debate. We present three cases, two of whom are sibs, who support the identity of the two syndromes. Our aim is to better redefine the diagnostic criteria, describe the natural history, and confirm the genetic cause of the Costello syndrome, whose pattern of inheritance is most likely autosomal recessive. |
| Databáze: | OpenAIRE |
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