Abstract |
We report a Brazilian girl, born to normal and non-consanguineous parents and presenting, among other signs, brachyacrocephaly, a wide forehead, hypertelorism, wide palpebral fissures with multiple eyelid colobomas, a broad and high nasal root, an absent nasal tip, a wide columella, a long and smooth philtrum, a carp-like mouth, macrostomia, a thin upper lip with midline notching, submucous cleft of the soft palate, a small and grooved chin, ear anomalies, Dandy-Walker anomaly, a structural anomaly of the corpus callosum, grey matter heterotopia, and mental retardation. The whole clinical picture of the present patient suggests a 'new' type of frontonasal dysplasia and main differential diagnosis includes the acrofrontofacionasal dysostosis 2 syndrome (MIM 201181). Other differential diagnoses are discussed.
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Authors | M L Guion-Almeida, A Richieri-Costa |
Journal | Clinical dysmorphology
(Clin Dysmorphol)
Vol. 8
Issue 1
Pg. 1-4
(Jan 1999)
ISSN: 0962-8827 [Print] England |
PMID | 10327243
(Publication Type: Case Reports, Journal Article)
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Topics |
- Abnormalities, Multiple
(pathology)
- Central Nervous System
(pathology)
- Ear
(abnormalities)
- Face
(abnormalities)
- Female
- Humans
- Infant
- Intellectual Disability
(pathology)
- Syndrome
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