ESPE Abstracts (2015) 84 P-3-1016

Autosomal Recessive Omodysplasia: A Rare Cause of Disproportionate Short Stature

Cristiane Kopaceka, Luciana Amorim Beltrãob, Victória Bernardes Guimarãesb, Julia Santana Trombettab, Karen Lizeth Puma Lliguinb, Vinicius de Souzab, Géssica Haubertb, André Campos da Cunhaa, Paulo Ricardo Gazzola Zenb & Rafael Fabiano Machado Rosaa,b

aHospital Materno Infantil Presidente Vargas (HMIPV), Porto Alegre, Brazil; bUniversidade Federal de Ciências da Saúde de Porto Alegre (UFCSPA), Porto Alegre, Brazil

Background: Autosomal recessive omodysplasia is considered a rare skeletal dysplasia characterized by severe micromelia with shortening and distal tapering of the humeri and femora.

Objective and hypothesis: To report the prenatal findings of a patient with autosomal recessive omodysplasia, a rare condition characterized by disproportionate short stature.

Population and/or methods: We performed a description of the case along with a literature review.

Results: The pregnant woman presented 38 years and she was in her seventh pregnancy. She was initially assessed in fetal medicine at the hospital at 29 weeks and 6 days of gestation due to obstetric ultrasound showing short femur and humerus. The pregnancy was uneventful. Her husband presented 40 years of age and was healthy and non-consanguineous. Family history was positive for a maternal uncle with nanism. Foetal ultrasound performed at 29 weeks and 6 days of pregnancy showed reduced amniotic fluid and important rhizomelic shortening of the limbs. The humerus measured 1.8 cm and the femur 2.4 cm. The hands and feet, as well as the face and thorax seemed normal. Bone mineralization was also normal. At this point, achondroplasia/hypochondroplasia emerged as diagnostic hypotheses. GTG-Banding karyotype performed through cordocentesis revealed a normal chromosomal constitution (46, XY). Foetal echocardiography was also normal. The ultrasound performed at 35 weeks and 6 days of gestation revealed femur measuring 3.4 cm. The estimated foetal weight was 1.441 g. The patient was born through vaginal delivery, at 37 weeks and 4 days of gestation, weighing 2.320 grams, measuring 40 cm, with head circumference of 33 cm and Apgar scores of 9 at 1st min and ten at fifth. He presented micromelia with important rhizomelic shortening of the upper and lower limbs, normal thorax and some dysmorphia: nevus flammeus at nose and glabella, small mouth, micrognathia, small ears with overfolded helix, bilateral single palmar crease and cryptochid testis. These clinical data added to the radiological features (that included radial head dislocations) were consistent with the diagnosis of autosomal recessive omodysplasia.

Conclusions: There are few reports in the literature of prenatal features of patients with this genetic condition. In prenatal, autosomal recessive omodysplasia has also been confused with other syndromes, as diastrophic dysplasia or even hypo/achondroplasia, due to the similarity of the findings. The definition of the diagnosis has important implications over the genetic counselling and patient management.