ESPE Abstracts (2016) 86 P-P2-857

aDepartment of Paediatric Endocrinology, Hospital for Children and Adolescents, University of Leipzig, Leipzig, Germany; bExplorations Fonctionnelles Endocriniennes, Hôpital d’Enfants Armand-Trousseau, Paris, France; cInstitute of Human Genetics, University Hospital of Technology (RWTH) Aachen, Aachen, Germany; dInstitute of Human Genetics, University Hospital Leipzig, Leipzig, Germany

Background: Silver-Russell syndrome (SRS) is a heterogeneous condition characterized by intrauterine growth restriction, relative macrocephaly at birth, postnatal growth retardation, body asymmetry, feeding difficulties/ low body mass index and dysmorphic craniofacial features. SRS is caused by DNA hypomethylation at the H19/IGF2-imprinting control region (ICR1) on chromosome 11p15 or maternal uniparental disomy of chromosome 7 (mUPD7) in approximately 50% and 10%, respectively. Most cases are sporadic.

Objective: To present a family with clinical SRS, suggestive of a dominant mode of inheritance.

Case presentation: Patient 1 was born spontaneously after an uneventful pregnancy as a child of non-consanguineous parents (maternal height: 153 cm, paternal height: 169 cm) in the 39th week of gestation with a weight of 1.96 kg, length of 45 cm and relative macrocephaly. At the age of 2.5 years, he was referred because of poor postnatal growth and severe short stature (height: −4.28 SDS). Clinical examination showed a triangular face with a prominent forehead and low-set ears. IGF-1 and IGFBP-3 levels were normal. Patient 2 is the maternal half-brother of patient 1 (paternal height: 183 cm). At birth, he was small for gestational age. At time of referral at 5.4 years, he had short stature, mild dysmorphic craniofacial features and clinodactyly V. The mother of patient 1 and patient 2, born as a child of tall parents (maternal height: 178 cm, paternal height: 193 cm), reached a final height of 153 cm. She has clinodactyly V and subtle SRS-like features. Interestingly, array CGH as well as studies for ICR1 hypomethylation and mUPD7 were normal in patient 1. Additional genetic analyses are currently being carried out to identify the underlying etiology of the familial SRS.

Conclusion: We present a multigenerational family with three members affected by clinical SRS suggestive of a dominant mode of inheritance of still unknown genetic etiology.

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