Misclassification risk of patients with bilateral cleft lip and palate and manifestations of median facial dysplasia: A new variant of del(22q11.2) syndrome?
| Autor: | Gerda Komposch, Gholamali Tariverdian, Angelika Stellzig, Birgit R. B. Schulze |
|---|---|
| Rok vydání: | 2001 |
| Předmět: |
Adult
Male Premaxilla Adolescent Chromosomes Human Pair 22 Cleft Lip Vascular anomaly Craniofacial Abnormalities Diagnosis Differential Holoprosencephaly Medicine Humans Abnormalities Multiple Craniofacial Genetics (clinical) In Situ Hybridization Fluorescence business.industry Brain Genetic Variation Infant Anatomy medicine.disease Magnetic Resonance Imaging Hypoplasia Cleft Palate Anal atresia medicine.anatomical_structure Bilateral cleft lip Dysplasia Chromosome Deletion business |
| Zdroj: | American journal of medical genetics. 99(4) |
| ISSN: | 0148-7299 |
| Popis: | The generic term median facial dysplasia (MFD) describes a subgroup of patients with cleft lip and palate exhibiting characteristic craniofacial defects: (1) short prolabium, (2) absence of frenulum labii, (3) hypoplasia of premaxilla, (4) absent upper central and lateral incisors of the cleft side, and (5) deficient septal cartilage and nasal spine. Gross brain malformations are usually absent in MFD. The same craniofacial malformations are also described in patients with holoprosencephaly sequence (HPE-S). We report on two male patients with bilateral cleft lip and palate showing the facial findings of MFD or HPE-S. Additional congenital malformations were anal atresia in one patient and severe cardiac defect in the other. In both, HPE was excluded by brain imaging, although uncommon brain anomalies were detected consisting of multiple white-matter lesions in the one patient and unusual enlargement and tortuosity of intracerebral blood vessels in both patients. In addition to facial anomalies, the patients also had psychiatric problems typically seen in velo-cardio-facial syndrome (VCFS). Fluorescence in situ hybridization (FISH) analysis confirmed a 22q11.2 microdeletion in both. |
| Databáze: | OpenAIRE |
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