Chondrodysplasia punctata (CDP) is an etiologically heterogeneous condition, characterized by stippled epiphyses [Poznanski, 1994;Chitayat et al., 2008]. CDP can be found as a non-specific finding in chromosome abnormalities and lysosomal storage disorders (such as GM1 gangliosidosis, I-cell disease, and galactosialidosis) [Poznanski, 1994]. It is a characteristic manifestation in various peroxisomal disorders (such as Zellweger syndrome and rhizomelic CDP), disorders of cholesterol biogenesis, known teratogen exposures (such as warfarin and phenytoin), and congenital infections [Poznanski, 1994;Menger et al., 1997;Chitayat et al., 2008]. The first example of X-linked recessive CDP was described in two families with mentally retarded boys with ichthyosis and facial dysmorphism shown to have Xp22.32 deletion and subsequent biochemical study demonstrated steroid sulfatase locus in that region [Curry et al., 1984]. Other genetic defects leading to this condition are X-linked recessive deficiency of arylsulfatase E, which is a vitamin K-dependent enzyme, autosomal recessive vitamin K epoxide reductase deficiency [Pauli et al., 1987], and autosomal recessive mutation in the gene encoding gammaglutamyl carboxylase, which is involved in vitamin K metabolism in bone and coagulation factors [Boneh and Bar-Ziv, 1996]. Maternal vitamin K deficiency secondary to malabsorption, celiac disease, short bowel syndrome were also reported to cause CDP [Menger et al., 1997].
An association between maternal systemic lupus erythematosus (SLE) and CDP was first described by Costa et al. [1993] and Curry et al. [1993]. Subsequently, other connective tissue disorders including mixed connective tissue disease (MCTD) and scleroderma were also shown to be associated with CDP [