小児研究の進歩
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概要

Silver-Russell syndrome with unusual clinical features: A case report

Nagalo K , Douamba S, Kabore A, Turgeon J, Laberge JM, Ye D

The Silver-Russell syndrome (SRS) is a rare heterogeneous genetic disorder whose pathogenesis remains controversial. The diagnosis is mainly based on the clinical association of characteristic signs, including intrauterine growth retardation, postnatal short stature, relative macrocephaly, triangular facies, clinodactyly of the fifth finger and asymmetry of the body. In this case report, we focused on a patient with SRS, who was spotted during a routine paediatric plastic surgery campaign in Ouagadougou, Burkina Faso (West Africa). The propositus is a young male with evident poor weight gain, relative macrocephaly, large and fibrous anterior fontanel, triangular facies, frontal bossing, hypertelorism, kypho-lordosis, clinodactyly and camptodactyly. The specific SRS features in this patient included flat feet and clubbing digit. In the subsequent follow-up, the patient revealed a few alterations in the craniofacial anomalies, but with heightened intellectual and psychological issues. The diagnosis, evolution and prognosis of this syndrome are discussed in the report, including the necessity for a clinical diagnostic score for SRS and other congenital malformations to aid clinicians in developing countries that are deprived of access to molecular or genetic diagnostics.