Severe craniofacial malformations and deglutition dysfunction in a brother and sister: new syndrome?
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.
Department of Medical Genetics, Ullevål Hospital, Oslo, Norway. k.h.orstavik@ioks.uio.no
K H
KH
Orstavik
S E
SE
Tangsrud
T
T
Nordshus
J E
JE
Lange
O
O
Renolen
T
T
Lyberg
D000015:Abnormalities, Multiple / Q000145:classification / Q000235:genetics*; D001724:Birth Weight; D002972:Cleft Palate / Q000235:genetics; D019465:Craniofacial Abnormalities / Q000145:classification / Q000000981:diagnostic imaging / Q000235:genetics*; D003680:Deglutition Disorders / Q000145:classification / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D005764:Gastroesophageal Reflux; D006801:Humans; D007231:Infant, Newborn; D008297:Male; D009030:Mosaicism; D009679:Nuclear Family; D010641:Phenotype; D018807:Polymorphism, Single-Stranded Conformational; D011597:Psychomotor Performance; D011859:Radiography; D020794:Receptor Protein-Tyrosine Kinases / Q000235:genetics; D051497:Receptor, Fibroblast Growth Factor, Type 2; D017468:Receptors, Fibroblast Growth Factor / Q000235:genetics; D013121:Spinal Curvatures / Q000235:genetics; D013577:Syndrome
D017468:Receptors, Fibroblast Growth Factor; C496353:FGFR2 protein, human; D020794:Receptor Protein-Tyrosine Kinases; D051497:Receptor, Fibroblast Growth Factor, Type 2