3 documents found, page 1 of 1
Whole Gene Deletion of EBF3 Supporting Haploinsufficiency of This Gene as a Mec...
Lopes, F; Soares, G; Gonçalves-Rocha, M; Pinto-Basto, JM; Maciel, PMutations in early B cell factor 3 (EBF3) were recently described in patients with a neurodevelopmental disorder (NDD) that includes developmental delay/intellectual disability, ataxia, hypotonia, speech impairment, strabismus, genitourinary abnormalities, and mild facial dysmorphisms. Several large 10q terminal and interstitial deletions affecting many genes and including EBF3 have been described in the litera...
Goldenhar syndrome: a rare diagnosis with possible prenatal findings
Ribeiro, B; Igreja, J; Gonçalves-Rocha, M; Cadilhe, AGoldenhar syndrome is a rare congenital disease associated with hemifacial hypoplasia as well as ear and ocular defects. Sometimes it is also associated with vertebral and other bone defects, cardiac malformations and central nervous system anomalies. Its aetiology is not yet clarified in the literature. We present a case of multiple malformations detected in the morphology ultrasound (at 22 weeks of gestation)...
A Case of IFAP Syndrome with Severe Atopic Dermatitis
Araújo, C; Gonçalves-Rocha, M; Resende, C; Vieira, AP; Brito, CIntroduction. The IFAP syndrome is a rare X-linked genetic disorder characterized by the triad of follicular ichthyosis, atrichia, and photophobia. Case Report. A three-month-old Caucasian, male patient was observed with noncicatricial universal alopecia and persistent eczema from birth. He had dystrophic nails, spiky follicular hyperkeratosis, and photophobia which became apparent at the first year of life. Sh...