Abstract
Oral-facial-digital syndrome (OFDS) is a group of disorders characterized by oral cavity malformation, facial deformities and digits anomalies. There are at least 13 forms of OFDS, in which most of them have brain anomalies and different degrees of mental retardation. We have reported two cases with quite different dysmorphic features. The first case was a female and had small wide-spaced eyes, wide nose bridge, middle line cleft of upper lip, cleft hard palate, microglossia, micrognathia, polydactyly and syndactyly of the upper and lower limbs. Moreover, she had congenital hypotonia. Brain and abdominal ultrasound studies were normal. The baby's mother had a history of losing her first pregnancy resulted from intrauterine fetal death who was presented with similar dysmorphic features. The second case was a 4-year-old male who had dysmorphic features; Antimongoloid eye slant, prominent ears, broad nose bridge, high arched palate, cleft soft palate, lingual nodule, preaxial and posaxial polydactyly with syndactyly in both hands, bilateral bifid thumbs and bilateral clinodactyly. Feet had polydactyly with syndactyly, and bifid big toe shape. The first time, that two cases with characteristic features of oral facial digital syndrome type II to be diagnosed in two Palestinian siblings of different family with consanguineous marriage.
Highlights
Oral-Facial-Digital Syndrome (OFDS) is a congenital disorder characterized with a variety of clinical abnormalities including: hypotelorism, hypertelorism, wide nose bridge, cleft lip, cleft palate, microglossia, micrognathia, retrognathia, preaxial polydactyly, postaxial polydactyly, clinodactyly, polycystic kidney disease and diverse forms of CNS defects resulting in different degrees of mental retardation, delay of speech and
Same thing happened to the second pregnancy and typically at same gestational age, the female baby showed normal physical examination
There is syndactyly between thumbs in each hand
Summary
Oral-Facial-Digital Syndrome (OFDS) is a congenital disorder characterized with a variety of clinical abnormalities including: hypotelorism, hypertelorism, wide nose bridge, cleft lip, cleft palate, microglossia, micrognathia, retrognathia, preaxial polydactyly, postaxial polydactyly, clinodactyly, polycystic kidney disease and diverse forms of CNS defects resulting in different degrees of mental retardation, delay of speech and. Findings from physical examination after birth were: small eyes, broad nose bridge, midline cleft upper lip, microglossia, cleft palate and micrognethia Both hands have clinodactyly and preaxial polydactyly as there are 7 fingers (duplicate thumb). The child had some abnormal features; Antimongoloid eye slant, prominent ears, broad nose bridge (Figure 9), high arched palate, cleft soft palate, lingual nodule (Figure 10), preaxial and postaxial polydactyly with syndactyly in both hands, bilateral bifid thumbs and bilateral clinodactyly (Figure 11). Both foot had polydactyly with syndactyly, and bifid big toe shape (Figures 12 and 13). Both cases need; multidisciplinary team approach to follow up different complaints, to coordinate between different medical specialties, and to observe the global development [13]
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