Hernández HRJ, Luna MMM, Mandujano CEA

Language: Spanish
References: 8
Page: 160-163
PDF size: 77.91 Kb.

ABSTRACT

A case of a female newborn with features of skeletal dysplasia with short stature, punctata chondrodysplasia, and icthiosiform skin syndrome is described. The mother refers a third cousin with a column defect, and the grandmother was skin affected (probable hyperquerathosis).
The father is epileptic treated with carbamazepin, valproic acid and hydantoin since 12 years old. The mother has a skin disorder and congenital scoliosis. Both parents had no other risk factors for the purpose. This second gestation ended at 36 weeks by cesarean with 2.2 k female delivery, 42 cm height, without asphyxia. This new born had many features corresponding to a dysplasic neonatal nanism, icthisyform syndrome, femur asymmetrical shortening, polydactily, short neck, clinodactily on right hand, and periarticular calcifications mainly in shoulders and knee, plathiespondily, and had no scoliosis.
Strongly suggesting a Conradi Hünermann syndrome (CHS). The family history showed dominant heritance, expressed in the mother, with icthisyform syndrome and scoliosis; features that are present in the CHS. The main differentiation is with rizomelic chondrodisplaya punctata form, but it has a autosomic recesive heritance and is lethal in man, with only 27% ictiosyform syndrome associated, therefore the mother should not be affected, if she was an heterocigotyc carrier. No skin biopsies were done. This is the first case seen along 20 years in a high rate Gineco-Obstetric Unit, we estimated a frequency of one every 400,000 newborn.

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