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Severe craniofacial malformations and deglutition dysfunction in a brother and sister: New syndrome?

✍ Scribed by �rstavik, Karen Helene; Tangsrud, Svein Erik; Nordshus, Tore; Lange, Johan Emil; Renolen, Olav; Lyberg, Torstein

Publisher: John Wiley and Sons
Year: 1998
Tongue: English
Weight: 15 KB
Volume: 78
Category: Article
ISSN: 0148-7299
DOI: 10.1002/(sici)1096-8628(19980707)78:3<260::aid-ajmg10>3.0.co;2-d

No coin nor oath required. For personal study only.

✦ Synopsis

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 10year-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. Am.

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