Growth retardation (70% of cases). Skin abnormalities: hyperpigmentation and/or café au lait spots in 80%. Squeletal malformations (60%), particularly radius axis defects (absent or hypoplastic thumb or radius...). No immune deficiency (in contrast with most other chromosome instability syndromes). Progressive bone marrow failure; mean age of onset of anemia: 8 yrs; diagnosis made before onset ...

BACKGROUND Congenital longitudinal deficiencies of the radius and thumb are known to be associated with one another; however, the details of their relationship are unknown. The purpose of this study was to determine whether increased severity of radial deficiencies is associated with increased severity of thumb deficiencies and to review the relationship between radial deficiency and reconstruc...

holt-oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. they range from clinodactyly, absent or digitalised thumb, hypoplastic...

Fig. 1 : Underdeveloped right sided chest muscles and right hand deformity. Fig. 2 : Hypoplastic right biceps brachii muscle, elevated and smaller right nipple. Fig 3 : Absence of right index, middle and ring fingers, and short thumb and little finger. Fig. 4 : Absence of phalangeal bones of index, middle and ring fingers. Fig. 5 : Unilateral translucency of right lung field due to absence of p...

Abstract We present a case of 32-year-old male with left-sided Goldenhar Syndrome and delta phalanx the thumb, who was offered free tissue transfer from forearm to address an intra-oral soft deficiency. Despite presence appropriately developed right radial artery, used in previous facial reconstruction, left artery occurred be hypoplastic. He ultimately underwent flap based on anomalous persist...

Holt-Oram syndrome is an autosomal dominant disorder, characterised by skeletal abnormalities of the upper limb associated with congenital heart defect, mainly atrial and ventricular septal defects. Skeletal defects exclusively affect the upper limbs in the preaxial radial ray distribution and are bilateral and asymmetrical. They range from clinodactyly, absent or digitalised thumb, hypoplastic...

Congenital hypoplasia of thumb is rare malformation which is less likely to appear as an isolated entity. Four independent subjects exhibiting various grades of underdeveloped first digital ray were recruited. The affected autopods had narrow palms, medial or valgus inclinations of index fingers and thenar weakness, while the postaxial digits were least affected. According to the classification...

Four patients had pulmonary agenesis. All were symptomatic in infancy. In three, symptoms improved during two to six years of follow-up. One, who died at one month, had a unique combination of agenesis of the right upper and middle lobes and a hypoplastic right lower lobe supplied by systemic arteries from below the diaphragm, total anomalous pulmonary venous drainage to the left superior vena ...

INTRODUCTION "On-top" and "side-to-side" plasties are techniques used for treating thumb duplications in which one thumb is adequate proximally and the other thumb contains a better pulp and nail distally. The detailed functional results of these techniques have not been reported in the literature. We report on two cases. PRESENTATION OF CASES The first case had Wassel type VI duplication. Th...