A moderately retarded girl had a 47,XX,+der(18),t(9;18)(p24;q21)mat abnormality that was inherited from her mother, who had a 46,XX,t(9;18)(p24;q21) karyotype in most cells, and a minor cell line of 47,XX,+der(18),-t(9;18)(p24;q21). Her dysmorphic features--bilateral epicanthic folds, low-set, abnormal ears, low posterior hairline, clinodactyly of the 5th fingers, and broad great toes--were sim...

A 30-year-old man presented to our hospital with developmental delay, recurrent respiratory infections and short stature. Examination showed broad thumbs and hallux, beaked nose and big toes. Rubinstein-Taybi syndrome (RTS) was diagnosed based on typical clinical features. RTS was described by Rubinstein and Taybi in 19631. They reported a patient with big toes, craniofacial ab nor ma lities an...

We lengthened seven first metatarsals in four patients with short great toes by callus distraction using an external fixator. Good clinical and cosmetic results were obtained. Bone lengthening is effective in patients with short great toes not only for cosmesis, but also to relieve pain and callosities on the plantar aspect of the second and third metatarsal heads. Excessive lengthening of the ...

BACKGROUND Pfeiffer syndrome (PS; OMIM #101600) is an autosomal dominant disorder characterized by craniosynostosis, midface hypoplasia, broad thumbs, brachydactyly, broad great toes, and variable syndactyly. CASE We report a case of PS (type 3) with tracheal and visceral involvement and sacrococcygeal eversion. The patient shows facial dysmorphism with macrocephaly, dolichocephaly, and trigo...

[Purpose] To investigate the relationships between toe flexor muscle strength with (TFS-5-toes) and without (TFS-4-toes) the contribution of the great toe, anatomical and physiological muscle cross-sectional areas (CSA) of intrinsic toe flexor muscle and physical performance were measured. [Subjects] Seventeen men (82% sports-active) and 17 women (47% sports-active), aged 20 to 35 years, volunt...

Pfeiffer Syndrome is as rare as Apert syndrome in the Western population. This condition is very rare in the Asian population and has not been previously reported in Korea. The authors report with a review of literature the case of a newborn baby with Pfeiffer syndrome, manifested by bicoronal craniosynostosis, broad thumbs, and big toes. The infant also had bilateral syndactyly of the fingers ...

MARCHESANI (1939) first described the syndrome which is named after him, and since the appearance of his report cases have been described in European and American literature. The characteristic features of this syndrome are: (1) Brachycephaly, small stature, short limbs, brachydactyly, short squat fingers and toes with broad hands and feet, limitation of movement at the joints, and well-develop...

Lipoma is rare in the planter aspect of the toes, and only few cases of massive lipoma have been reported in this site. The differential diagnosis of masses in the foot and toes is wide, and clinical diagnosis may be challenging. Access to magnetic resonance imaging, a standard diagnostic investigation for such soft tissue masses of the foot and toes, may be limited in some practice, requiring ...