Niño con síndrome tricorrinofalángico tipo II acompañado de baja estatura / Triehorhinophalangeal syndrome type II presenting with short stature in a child

El síndrome tricorrinofalángico (STRF) tipo II (sinónimo: síndrome de Langer-Giedion) es un síndrome autosómico dominante raro que afecta genes adyacentes y que se produce como resultado de una microdeleción que abarca los genes EXTl y TRPSl en la banda 8q24 (OMIM 150230). En este síndrome se combinan características de dos trastornos autosómicos dominantes: el síndrome tricorrinofalángico tipo I (OMIM 190350) y la osteocondromatosis múltiple hereditaria tipo I (OMIM 133700). El STRF tipo II se caracteriza por escaso cabello, nariz prominente y de extremo bulboso, surco nasolabial plano y alargado, epífisis de las falanges en forma de cono, retraso de la edad ósea durante la infancia y osteocondromas cartilaginosos múltiples. En este artículo presentamos el caso de un paciente de Turquía con las características clínicas y los signos óseos del STRF tipo II en el que se detectó una deleción de 13,8 Mb en las bandas 8q23.1-8q24.13.

Trichorhinophalangeal syndrome type II (TRPSII) (synonym: Langer-Giedon syndrome) is a rare autosomal dominant contiguous gene syndrome, resulting from a microdeletion encompassing the EXT1 and the TRPS1 gene at 8q24 (MIM#150230). This syndrome combines the clinical features of two autosomal dominant disorders, trichorhinophalangeal syndrome type I (MIM#190350) and hereditary multiple osteochondromas type I (MIM # 133700). TRPSII is characterized by sparse scalp hair, a long nose with a bulbous tip, long flat philtrum, cone-shaped epiphyses of the phalanges, retarded bone age in infancy and multiple cartilaginous osteochondromas. We report a Turkish patient who had the clinical features and skeletal signs of TRPSII in whom a 13.8Mb deletion in 8q23.1- 8q24.13 was detected.

Síndrome de Langer-Giedion con deleción 8q23. 1-q24. 12, diagnosticado por hibridación genómica comparativa / Langer-Giedion syndrome with 8q23. 1-q24. 12 deletion diagnosed by comparative genomic hybridization

El síndrome de Langer-Giedion, también conocido como síndrome tricorrinofalángico tipo II, es una enfermedad hereditaria multisistémica que pertenece al grupo de síndromes por deleción de genes contiguos. La causa de este síndrome es una deleción heterocigota que compromete, por lo general, la región 8q23.3-q24.11 y afecta, principalmente, los genes TRPS1, RAD21 y EXT1. Este síndrome se caracteriza por osteocondromatosis múltiple en las extremidades, hipertricosis y fenotipo facial, que incluye pelo escaso en el cuero cabelludo, orejas grandes sobresalientes y nariz larga con una punta bulbosa. Se reporta el caso de un paciente colombiano con hallazgo de deleción en la región cromosómica 8q23.1-q24.12 mediante técnicas de hibridación genómica comparativa y hallazgos clínicos clásicos. Este es el primer caso reportado en Colombia.

The Langer-Giedion syndrome, also known as trichorhinophalangeal syndrome type II, is a hereditary multisystemic disease part of the group of contiguous gene deletion syndromes. The cause of this syndrome is a heterozygous deletion that involves the chromosomal region 8q23.3-q24.11 and mainly affects genes TRPS1, RAD21, and EXT1. This syndrome is characterized by the presence of multiple osteochondromas in limbs, hypertrichosis, and facial phenotype that includes sparse scalp hair, large laterally protruding ears, a long nose with a bulbous tip. We report the case of a Colombian patient with finding of an 8q23.1-q24.12 deletion by comparative genomic hybridization array technique and classical clinical findings, being the first case reported in Colombia.

Anormalidades esqueléticas da síndrome tricorrinofalangiana tipo I / Skeletal abnormalities of tricho-rhino-phalangeal syndrome type I

Resumo A síndrome tricorrinofalangiana (STRF) tipo I é uma doença genética rara, relacionada com a mutação no gene TRPS1 do cromossomo 8. É caracterizada por anomalias craniofaciais e distúrbios na formação e maturação da matriz óssea. As características são cabelos ralos e quebradiços, tendência à calvície prematura, nariz bulboso em formato de pera, filtro nasal longo e plano e baixa implantação das orelhas. As alterações esqueléticas mais notáveis são a clinodactilia, as epífises das falanges das mãos em forma de cone, a baixa estatura e as malformações na articulação do quadril. Relata-se o caso de um adolescente diagnosticado com STRF e encaminhado para avaliação reumatológica em decorrência de queixas articulares.

Abstract The tricho-rhino-phalangeal syndrome (TRPS) type I is a rare genetic disorder related to the TRPS1 gene mutation in chromosome 8, characterized by craniofacial abnormalities and disturbances in formation and maturation of bone matrix. The hallmarks are sparse and brittle hair, tendency to premature baldness, bulbous nose called pear-shaped, long and flat filter and low ear implantation. The most noticeable skeletal changes are clinodactyly, phalangeal epiphyses of the hands appearing as cone-shaped, short stature and hip joint malformations. We report a case of a teenager boy diagnosed with TRPS and referred for rheumatologic evaluation due to joint complaints.

Trichorhinophalangeal syndrome type I - Clinical, microscopic, and molecular features.

Trichorhinophalangeal syndrome type I (TRPS I) is an autosomal dominant malformation syndrome characterized by a triad of hair alteration, craniofacial and skeletal abnormalities. TRPS1 gene was first identified in 2000 and mapped on chromosome 8q23.3. A 39-year-old female patient with short stature (149 cm) visited for fine sparse and slow-growing hair with receded medio-occipital hairline of roughly triangular shape since infancy. A typical pear-shaped nose and elongated philtrum were noticeable. In addition, she reported deviation of middle phalanges, bilateral coxa varus in both hips and brachydactyly on bilateral fourth digits. Mutation analysis identified a transition of cytosine to thymine at position 1630 (exon 4), which results in amino acid change R544X and a premature stop of translation. There is no established treatment. But through careful evaluation of suspicious cases to identify potential mutation carriers, the patient can receive information about the disease and genetic counseling.