Acro-fronto-facio-nasal dysostosis: Report of a new brazilian family
Author:
Publisher
Wiley
Subject
Genetics(clinical)
Reference5 articles.
1. The median cleft face syndrome: Differential diagnosis of cranium bifidum occultum, hypertelorism, and median cleft nose, lip, and palate
2. Ocular Abnormalities in the Median Cleft Face Syndrome
3. A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and postaxial poly-syndactyly: Acro-fronto-facio-nasal dysostosis syndrome
4. Autosomal recessive acro-fronto-facio-nasal dysostosis associated with genitourinary anomalies
5. Frontonasal dysplasia
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1. Prenatal diagnosis of a severe form of frontonasal dysplasia with severe limb anomalies, hydrocephaly, a hypoplastic corpus callosum, and a ventricular septal defect using 3D ultrasound: a case report and literature review;BMC Pregnancy and Childbirth;2024-06-10
2. Cleft 30;Facial Reconstruction of Unusual Facial Clefts;2023
3. A novel intronic variant in PIGB in Acrofrontofacionasal dysostosis type 1 patients expands the spectrum of phenotypes associated with GPI biosynthesis defects;Bone;2021-12
4. Mutations in the Neuroblastoma Amplified Sequence gene in a family affected by Acrofrontofacionasal Dysostosis type 1;Bone;2018-09
5. MR Imaging of the Fetal Face: Comprehensive Review;RadioGraphics;2018-05
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