Child and mother with unusual facies: Trichorhinophalangeal syndrome type I revisited
نویسندگان
چکیده
منابع مشابه
Trichorhinophalangeal syndrome type I: symptoms and signs, radiology and genetics.
The present study shows the occurrence of the trichorhinophalangeal syndrome type I in a Swedish family. Five members were affected and they were examined clinically and radiologically, and four of them were also cytogenetically examined. Three of them had dysplasia of the hip joints reminiscent of the Legg-Calvé-Perthes disease. Functional hand problems were common. High resolution G banding d...
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provided the original work is properly cited. CC Femoral hypoplasia-unusual facies syndrome (FHUFS) is a rare and sporadic condition comprised of multiple congenital malformations including bilateral femoral hypoplasia and characteristic facial features [1,2]. Patients with FHUFS may undergo various operations whether those procedures are associated with the syndrome or not. This syndrome is kn...
متن کاملThe femoral hypoplasia-unusual facies syndrome.
A series of thirteen persons with bilateral femoral hypoplasia are presented. Six of these had facial features compatible with a diagnosis of femoral hypoplasia-unusual facies syndrome. One was attributable to severe fetal constraint secondary to oligohydramnios, three were associated with maternal diabetes, and two were idiopathic. All thirteen cases were sporadic.
متن کاملTrichorhinophalangeal syndrome type II presenting with short stature in a child.
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 osteochon...
متن کاملTrichorhinophalangeal Syndrome
Submit Manuscript | http://medcraveonline.com (Figures 1 & 2). Intellectual development was normal and absence of similar cases in the family. The laboratory tests requested were hemogram, electrolytes, albumin, glycemia, thyrotrophic hormone, parathyroid hormone, vitamin D and zinc; all normal. Radiographs showed bone changes of the phalanges, with cone-shaped epiphyses (Figure 3) and advanced...
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ژورنال
عنوان ژورنال: Indian Journal of Paediatric Dermatology
سال: 2017
ISSN: 2319-7250
DOI: 10.4103/2319-7250.203005