WebJan 1, 2012 · BRESEK/BRESHECK syndrome is a multiple congenital malformation characterized by brain anomalies, intellectual disability, ectodermal dysplasia, skeletal deformities, ear or eye anomalies, and ... WebWe report a 5 months-old male patient with the p.R429H mutation in MBTPS2 protein, which has been reported to be associated with the most severe phenotype of patients with IFAP/BRESHECK syndrome. This patient presented with a severe IFAP/BRESHECK phenotype including ichthyosis follicular, atrichia, photophobia, brain anomalies, global ...

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WebIn some patients the skin, hair and corneal disease is accompanied by severe internal anomalies such as kidney dysplasia, brain anomalies and mental retardation, Hirschsprung disease, cleft palate, external ear malformations, cryptorchidism, and skeletal deformities, a combination of signs that some have called BRESEK/BRESHECK syndrome. WebFeb 25, 2024 · The same mutation had previously been reported in a patient with severe IFAP (Oeffner et al., 2009), indicating that the 2 disorders are allelic and represent a phenotypic spectrum. In a 5-month-old Portuguese boy with severe findings of IFAP1/BRESHECK syndrome, Corujeira et al. (2013) identified the R429H mutation in … map of lisbon port

NM_015884.4(MBTPS2):c.1286G>A (p.Arg429His) AND IFAP …

WebThe IFAP/BRESHECK syndrome is an X-linked multiple congenital anomaly disorder with variable severity. The classic triad, which defines IFAP, is ichthyosis follicularis, atrichia, and photophobia. Some patients have additional features, including mental retardation, brain anomalies, Hirschsprung disease, corneal opacifications, kidney dysplasia ... WebHilary Whitworth, MD. Hilary Whitworth, MD, is an attending physician with the Division of Hematology at Children's Hospital of Philadelphia. Appointments and Referrals: 1-800-TRY-CHOP (1-800-879-2467) map of lisbon portugal cruise port