Varadi-Papp syndrome (OFD-VI)‎ In a Kuwaiti boy

الملخص EN

-Objectives: We describe a case of Oro - Facio -Digital syndrome (OFD-VI), and make a comparison between the phenotype and the reported OFD syndromes.

Methods: Clinical examination, skeletal survey, echocardiography, sonographic study, CT-Scanning and karyotyping were carried out.

Results: The boy had unusual facial features, psychomotor retardation, limb malformations and other anomalies similar to Varadi et al syndrome.

Hand I feet radiography showed central polydactyly with Y-shaped appearance of the 3 * metacarpal bone of both hands and reduplicated halluces.

He had also ASD , cerebellar vermis hypoplasia, and dilatation of cerebral ventricles.

Chromosomal analysis showed normal male karyotype (46,XY).

Conclusion: The reported phenotype is greatly similar to the Varadi-Papp (OFD-VI) syndrome.

Introduction: In 1980 Varadi et al described a new syndrome of hexadactyly, reduplicated big toes, cleft lip/palate or lingual nodules and psychomotor retardation(7 ,3).

Munke et al reported a further clinical delineation of the Varadi et al (OFD-VI) syndrome and suggested cerebellar vermis hypoplasia as a consistent finding of the syndrome18*.

Toriello H\/'2) reported that Varadi-Papp syndrome (OFD-VI) differs from the other types of OFDS because of cerebellar dysgenesis and central polydactyly of hands.

Cleper et al reported an overlap between Varadi and Opitz trigonocephaly syndrome in two Arab male cousins11’.

The described autosomal recessive phenotype could be added to the countable cases of Varadi-Papp (OFD-VI) syndrome.

Case report: Our proband is a two and half year old boy, the 3rd sibling after two healthy girls.

His delivery was normal after full term and uneventful pregnancy.

Apgar scores were 8 & 9 at 1 & 5 minutes respectively.

The birth weight was 4.0 kg, nevertheless he had an incubator care because of difficult feeding and chocking in the postnatal period.

The parents were healthy, consanguineous and their ages were 26 years & 24 years for the father and the mother respectively at the time of birth.

He had moderate mental/growth retardation, unusual facial appearance, and oral-facial-digital malformations.

The height was 87cms (10 ,h centile), weight 12.6kg (25 th centile), OFC 49.9cms (50lh centile).

He had broad forehead /nasal root, hypertelorism, telecanthus, low set and posteriorly rotated ears, long philturm, lingual nodules and high arched palate.

The limbs show