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

doi:10.1002/(sici)1096-8628(19980707)78:3<260::aid-ajmg10>3.0.co;2-d

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Article

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

American journal of medical genetics - 7 Jul 1998

Orstavik K H, Tangsrud S E, Nordshus T, Lange J E, Renolen O, Lyberg T

Abstract excerpt

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 exo...

Topics

Abnormalities, Multiple
Birth Weight
Cleft Palate
Craniofacial Abnormalities
Deglutition Disorders
Fatal Outcome
Female
Gastroesophageal Reflux
Humans
Infant, Newborn
Male
Mosaicism
Nuclear Family
Phenotype
Polymorphism, Single-Stranded Conformational
Psychomotor Performance
Radiography
Receptor Protein-Tyrosine Kinases

Source

Open in PubMed

Identifiers

PMID: 9677062
DOI: 10.1002/(sici)1096-8628(19980707)78:3<260::aid-ajmg10>3.0.co;2-d

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 30 Aug 2026. Prepared record publication-9677062-2026-08-30.1. Manifest publication-graph-cohort-2026-08-30.1.

Source receipt: PubMed via Helena Literature Corpus, retrieved 30 Aug 2026.

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