Abstract for presentation at 11th International Congress of Human Genetics

Congenital cataracts, facial dysmorphism, neuropathy - clinical study of a new family

  • Dr Cristina Rusu, University of Medicine, Department of Medical Genetics, Romania
  • Dr Roxana Popescu, Children's Hospital, Medical Genetics Centre, Romania
  • Prof Mircea Covic, University of Medicine, Department of Medical Genetics, Romania

    • Congenital cataracts- facial dysmorphism- neuropathy (CCFDN) is a recently described (1999) autosomal recessive disorder found amongst Gypsy families (especially Rudari) of Balkan and Central European countries. The gene maps on 18q23, the specific mutation being a single-nucleotide substitution in intron 6 of the CTDP1 gene.
    We present a family with CCFDN in order to illustrate this rare entity and to present some particularities. It is the first family identified in Romania. The parents are Gypsies (not Rudari), apparently normal, young, unrelated. They have 2 affected children (no healthy children). The son: normal pregnancy, natural birth, Wt 3,200 g, no neonatal resuscitation. Development: motor- severe delay, cognitive- mild delay. Diagnosed with congenital cataracts (bilateral lens removal at 11 Mo). Physical exam (11 y 5 Mo old): dwarfism (Ht:-4.4 SD, Wt:-3.4 SD, HC:-3.2 SD), marked dorsal kypho- scoliosis, dysmorphic face (prominent lower face, microphtalmia, microcorneea, nistagmus, drooling), diminished muscle bulk (extremities), right club foot, infantile external genitalia, intentional tremor. Neurologic exam: sensitivo- motor neuropathy, delayed nerve conduction; brain CT, karyotype: normal. The daughter: normal pregnancy, natural birth, Wt 3,000 g, no neonatal resuscitation. Development: motor- moderate delay, cognitive- mild delay. Diagnosed with congenital cataracts (bilateral lens removal). Physical exam (8 y 5 Mo old): Ht:-1.9 SD, Wt:-3.6 SD, HC:-4.3 SD, dysmorphic face (prominent lower face, microphtalmia, microcorneea), bilateral pes cavus. Neurologic exam: sensitivo- motor neuropathy, delayed nerve conduction; brain CT, karyotype: normal. We did differential diagnosis with Marinesco-Sjorgren syndrome and galactokinase deficiency. In conclusion, the study illustrates a rare disorder, confirms that CCFDN is also present in Romania and presents some particularities (variable expression, microcephaly, prognatism, severe kypho- scoliosis).

    Conference Organiser - ICMS Pty Ltd