Cornelia de Lange syndrome is a genetic disorder with physical, cognitive, somatic and endocrine disorders. Objective. To study endocrine and mammary disorders in girl with Cornelia de Lange syndrome. Objective and hypotheses: We describe a clinical case of Cornelia de Lange syndrome in girl, 10 y.o.
Method: Total examination (includingmammological and gynecological examination), hormonal analysis, thyroid, mammological and gynecological ultrasound examination (USE), boneageX-ray.
Results: Externalexamination data: brachycephaly, marble skin, a small nose, long philtrum, thin upper lip, downturned mouth, micrognathia, ptosis, strabismus, unibrow (synophrys), small hands and feet, short and incurved fifth fingers (clinodactyly), partial joining of the second and third toes, hypertrichosis, umbilical hernia. Mental development: disorder of intellectual development (imbecility). Physical development: height 130.5 sm, SDS -0.9; weight 23 kg, BMI 14.2 kg/m2. Sex development: Tanner II (thelarche).
Echocardiography: tricuspid valve prolapsed. Thyroid examination: palpable and visible struma, USE (goiter I ),isolated hypothyroxinemia. Mammological examination: nipple hypoplasia, USE (bilateral cystsinareolaarea). Gynecological USE: the normal sizes of the uterus and ovaries. BoneageX-ray: the bone age is 8.5 years.
Conclusion: Feature of this case were endocrine (isolated hypothyroxinemia) and mammary disorders (bilateral cystsinareolaarea).
19 - 21 Sep 2019
European Society for Paediatric Endocrinology