ESPE Abstracts

Introduction: The 3 M- syndrome is a rare autosomal recessive disease, which was named after the three first authors Miller, McKusick and Malvaux. It is characterized by pre- and postnatal disproportionate short stature with micromelia, relative macrocephaly, and radiological bone dysmorphism. It is based on a mutation in one of the three genes CUL7, OBSL1 or CCDC8.

Methodology: We report on a meanwhile 4 4/12- year- old girl who presented to in our pediatric endocrinology outpatient department at the age of 11 months because of short stature and body dysproportion. A chorionic villus biopsy washad been performed in the XX th week of gestation due to a thickened neck fold (3.7 cm), which was normalshowing a normal result. The birth was carried out byShe was born via secondary caesarean section with due to birth arrest after 41 + 5 weeks, with a weight of 2430 g (0.4 kg <3rd P), a body length of 44 cm (4 cm <3rd P), and a head circumference of 33. 5 cm (10th-25th P). A chorionic villus biopsy was performed due to a thickened neck fold (3.7 cm), which was normal. The U2After birth, showed short tubular bones, especially in of the upper extremities were noted.

Results: The U2 showed short tubular bones, especially in the upper extremities. Radiographically there 12th ribs were missing and 12th ribs and signs of spondyloepiphyseal dysplasia were evident. At the age of 4 4/12 years of age, growth was clearly disproportionate (ratio between torso length of 48.2 cm in relation to theand total body length of 83.6 cm was clearly above +2 SDS; the quotient ratio betweenof subischial leg length to torso length wasof 0.76 and thus significantly reduced . Genetic diagnostics showed a Mutation in the CUL7 gene.

Conclusions: With this case report, we recall the 3M- syndrome as a rare but important differential diagnostic option for in the delineation of primordial short stature. The differential diagnosis entity must be differentiated from Silver-Russel syndrome, Bloom syndrome, Dubowitz syndrome, Rubinstein-Taybi syndrome, floating Harbor syndrome, Mulibrey nanism and fetal alcohol syndrome. Children with 3M syndrome develop abnormal clinical radiographic signs of disproportionation that enable diagnosis. The diagnosis is confirmed by detection of mutations in one of the three genes mentioned.