The present study investigated the pattern of limb malformations induced in mice by methoxyacetic acid (MAA), one of di(2-methoxyethyl) phthalate (DMEP) metabolites. Pregnant Jcl:ICR mice were given orally at gestational day (gd) 10.5, 11.0, or 11.5 (vaginal plug = gd 0) a single dose of MAA 10 mmol/kg of body weight. Fetuses were examined at gd 15.5 for external and skeletal malformations. Lim...

Ectrodactyly, also known as Split-Hand/Split-Foot Malformation (SHFM) is a rare genetic condition characterized by defects of the central elements of the autopod. It has a prevalence of 1:10,000-1:90,000 worldwide. The X-linked and autosomal dominant types have been described. It can occur as an isolated malformation or in combination with other anomalies, such as tibial aplasia, craniofacial d...

The case of a newborn male with trisomy 18 syndrome, having bilateral syndactyly, aplasia and hypoplasia of the foot digits, unilateral ectrodactyly of the left foot and a prominently dorsiflexed hallux, clenched hand with overlapping fingers and general hypertonia, is presented. There are only 5 cases of trisomy 18 syndrome associated with ectrodactyly in the literature. We present a case of t...

Split hand/split foot malformation (SHSF) has been described in several patients associated with cytogenetically visible rearrangements involving chromosome 7q. Characterisation of these patients has led to localisation of an autosomal dominant form of SHSF to 7q21-22; the locus has been designated SHFM1. We describe a patient with a complex, apparently balanced cytogenetic rearrangement, inclu...

INTRODUCTION Ectrodactyly-ectodermal dysplasia-cleft lip or palate syndrome (OMIM No. 129900) is characterized by the triad of ectrodactyly, ectodermal dysplasia and facial clefting (of the lip and/or palate). Holoprosencephaly denotes a failure in the division of the embryonic forebrain (prosencephalon) into distinct lateral cerebral hemisphere. The association between ectrodactyly-ectodermal ...

Ectrodactyly, ectodermal dysplasia, and cleft lip/palate (EEC) is a rare syndrome having ectrodactyly, ectodermal dysplasia, and cleft lip/palate. So far, very few cases have been reported in literature. However, we report a case of incomplete EEC syndrome having ectrodactyly and cleft lip and palate with absence of signs of ectodermal dysplasia with no other systemic anomalies. Other feature n...

We report on five male subjects with a triad of signs compatible with Hartsfield syndrome: ectrodactyly, holoprosencephaly, and mental retardation. Only six patients with this distinctive association have been reported over the past 20 years, all of them being males. Of the patients described here, some have unreported findings such as vermian hypoplasia in one and prolonged survival into adult...

Address for Correspondence: Dr. Subhra Mandal, M.B.B.S., M.D. (Anatomy), Associate Professor, Dept. of Anatomy, Medical College, Kolkata, West Bengal, India. Contact No.: +919477458100 E-Mail: [email protected] Access this Article online Quick Response code Web site: *1Associate Professor, Dept. of Anatomy, Medical College, Kolkata, West Bengal, India. 2Post Graduate Resident in DNB ( PMR...

The association of ectrodactyly (lobster claw deformity or cleft of the hands and feet) and dacrocystitis was first reported by Cockayne in 19361, It was, however, Rudiger and others2 who stressed the association of atypical ectodermal dysplasia with ectrodactyly and cleft lip and palate and suggested the name EEC -syndrome, This is a rare congenital syndrome which shows both a familial autosom...