Anonychia and hyponychia congenita (OMIM 206800) are rare autosomal recessive conditions in which the only presenting phenotype is the absence or severe hypoplasia of all fingernails and toenails. After determining linkage to chromosome 20p13, we identified homozygous or compound heterozygous mutations in the gene encoding R-spondin 4 (RSPO4), a secreted protein implicated in Wnt signaling, in eight affected families. Rspo4 expression was specifically localized to developing mouse nail mesenchyme at embryonic day 15.5, suggesting a crucial role in nail morphogenesis.

The autosomal recessive skin condition harlequin ichthyosis (HI) is the most severe and often lethal form of recessive congenital ichthyosis. 1 Infants born with HI have hard, thick skin covering most of their body. This skin abnormality leads to ectropion (eyelids) and eclabion (lips) plus malformations of the fingers and toes, as shown in Figure 1. Impaired barrier function leads to increased water loss, poor temperature regulation and susceptibility to infection. 2 The gene responsible for HI has recently been identified as ABCA12, a member of the adenosine triphosphate-binding cassette (ABC) superfamily of active transporters. [3][4][5] There is evidence to suggest that the ABCA12 protein is involved in the transportation of key lipids to the stratum corneum of the epidermis. 3 Previously, prenatal diagnosis of HI has been performed by nonmolecular procedures such as fetoscopy and ultrasonographically guided fetal skin biopsies to identify abnormal ultrastructure. 6-9 The implementation of DNA diagnosis for HI has now facilitated early and robust prenatal testing for HI. 10 (authors' unpublished studies) Preimplantation genetic testing is also now possible.

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deficit !À12.0 was considered normal. Newborn babies were monitored for following outcomesmoderate to severe encephalopathy, need of inotropes and death. Results Eighty six(86) of 490 neonates were non-vigorous and 404 were vigorous at birth. All 404 vigorous babies had cord pH >7 and none of them died or had encephalopathy. Out of 86 non-vigorous neonates, 3 had cord pH <7 and another 6 had base deficit <-12. Two out of 86 babies had moderate to severe encephalopathy and one of them died. Conclusion Umbilical arterial blood analysis did not have added advantage over APGAR score in detection of encephalopathy or death in category II CTG.