Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome?
| Autor: | K H, Orstavik, S E, Tangsrud, T, Nordshus, J E, Lange, O, Renolen, T, Lyberg |
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| Rok vydání: | 1998 |
| Předmět: |
Male
Mosaicism Infant Newborn Receptor Protein-Tyrosine Kinases Syndrome Receptors Fibroblast Growth Factor Spinal Curvatures Nuclear Family Cleft Palate Craniofacial Abnormalities Radiography Fatal Outcome Phenotype Gastroesophageal Reflux Birth Weight Humans Abnormalities Multiple Female Receptor Fibroblast Growth Factor Type 2 Deglutition Disorders Polymorphism Single-Stranded Conformational Psychomotor Performance |
| Zdroj: | American journal of medical genetics. 78(3) |
| ISSN: | 0148-7299 |
| Popis: | We report seemingly unique craniofacial malformations and deglutition dysfunction in a sib pair. The boy had right maxillomandibular alveolar synechae, ankylosis of right temporomandibular joint, hypoplasia of the zygomatico-maxillary region, nasal deviation to the left, choanal stenosis, and exophthalmos due to shallow orbita. His ears were apparently low-set with prominent lobules. He had severe gastroesophageal reflux and increasing respiratory problems and died at age 11 months. Psychomotor development was normal. His 10-year-old sister had similar craniofacial malformations and a cleft soft palate. She also had a severe deglutition dysfunction and developed a thoracolumbar kyphoscoliosis. Psychomotor development was normal. The parents were healthy and non-consanguineous. The malformations in the sibs do not fit any reported craniofacial malformation syndrome and may represent a previously unrecognized monogenic disorder. This may be an autosomal recessive or dominant trait with gonadal mosaicism in one of the parents. |
| Databáze: | OpenAIRE |
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