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

• Published in: American journal of medical genetics 1998-07, Vol.78 (3), p.260-262
• Main Authors: Ørstavik, Karen Helene, Tangsrud, Svein Erik, Nordshus, Tore, Lange, Johan Emil, Renolen, Olav, Lyberg, Torstein
• Format: Article
• Language: English
• Subjects: Abnormalities, Multiple - classification; Abnormalities, Multiple - genetics; Biological and medical sciences; Birth Weight; Cleft Palate - genetics; Complex syndromes; Craniofacial Abnormalities - classification; Craniofacial Abnormalities - diagnostic imaging; Craniofacial Abnormalities - genetics; craniofacial malformations; Deglutition Disorders - classification; Deglutition Disorders - genetics; deglutition dysfunction; Fatal Outcome; Female; Gastroesophageal Reflux; Humans; Infant, Newborn; Male; Medical genetics; Medical sciences; Mosaicism; Nuclear Family; Phenotype; Polymorphism, Single-Stranded Conformational; Psychomotor Performance; Radiography; Receptor Protein-Tyrosine Kinases - genetics; Receptor, Fibroblast Growth Factor, Type 2; Receptors, Fibroblast Growth Factor - genetics; scoliosis; Spinal Curvatures - genetics; Syndrome
• ISSN: 0148-7299; 1096-8628
• DOI: 10.1002/(SICI)1096-8628(19980707)78:3<260::AID-AJMG10>3.0.CO;2-D

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. Am. J. Med. Genet. 78:260–262, 1998. © 1998 Wiley‐Liss, Inc.