Andre Mégarbané, Cybel Mehawej, Daniel Mahfoud, Eliane Chouery, Koenraad Devriendt, Mariam Hijazi, Seung W Ryu, JiHye Kim, Alisdair McNeill
Here we report the case of a young boy with developmental delay, thin sparse hair, early closure of the anterior fontanel, bilateral choanal atresia, brachyturicephaly; and dysmorphic features closely resembling those seen in trichorhinophalangeal syndrome (TRPS). These features include sparse hair, sparse lateral eyebrows, a bulbous pear shaped nose, a long philtrum, thin lips, small/hypoplastic nails, pes planovalgus; bilateral cone-shaped epiphyses at the proximal 5th phalanx, slender long bones, coxa valga, mild scoliosis, and delayed bone age...
April 26, 2024: European Journal of Medical Genetics