Trichorhinophalangeal syndrome II, expanding the clinical spectrum

Egyptian Journal of Medical Human Genetics

Neveen S. Seifeldin¹  Heba Salah Abd Elkhalek²  Ahmed ES Elghawaby²  Rabah M. Shawky²  Shaimaa Abdelsattar Mohammad³ 

[1] Dermatology Department, Ain-Shams University, Egypt;Pediatric Department, Genetics Unit, Ain Shams University, Egypt;Radio Diagnosis Department,  Ain-Shams University, Egypt;

关键词: Trichorhinophalangeal syndrome;    Langer–Giedion syndrome;    Exostosis;    Short stature;    Cone shaped epiphyses;   

DOI  :  10.1016/j.ejmhg.2014.05.007

来源: DOAJ

【 摘 要 】

We report a 4.5 year old Egyptian male child, fourth in the order of birth of healthy remote consanguineous parents. He has typical facial as well as skeletal features of Trichorhinophalangeal syndrome (TRPS) II. The facial features included bilateral downward slanting palpebral fissures, bulbous nose, long filtrum, retromicrognathia, sparse hair in the scalp and thick eyebrows. The skeletal features included retarded bone age, cone shaped epiphyses of the phalanges and multiple exostoses. The patient has also growth retardation, moderate mental retardation and hyperlaxity of the right knee joint. However our patient has some features not reported in TRPS II patients. These included bilateral partial ptosis, long eye lashes, preauricular skin tag, short 2nd right finger, short metacarpals of both thumbs. So we have to expand the clinical spectrum. Karyotype demonstrated 46,XY,del 8(q23.3-q24.1).

【 授权许可】

Unknown