๐”– Bobbio Scriptorium
โœฆ   LIBER   โœฆ

Further delineation of the Verloes-Koulischer-oro-acral Syndrome

โœ Scribed by de Silva, Deepthi C.; Verloes, Alain


Publisher
John Wiley and Sons
Year
1998
Tongue
English
Weight
22 KB
Volume
80
Category
Article
ISSN
0148-7299
DOI
10.1002/(sici)1096-8628(19981228)80:5<535::aid-ajmg22>3.0.co;2-3

No coin nor oath required. For personal study only.

โœฆ Synopsis


Further Delineation of the Verloes-Koulischer-Oro-Acral Syndrome

To the Editor: Verloes and Koulischer [1992] reported on a woman with absence of the medial part of the upper alveolar ridge including the gingiva, frenulum, and tooth buds for the maxillary incisors and canines, for which the name Verloes-Koulischer oro-acral (VKOA) syndrome was suggested in the London Dysmorphology data-ase. Cohen [1992] reported on a boy with absent maxillary incisors and canines and asymmetric defects of the hands and the left first and second toes. Both these individuals also had a similar facial appearnce with a receding upper lip and relative mandibuar prognathism. Neither had a cleft of the palate or lip, nor anomaly of the tongue, although the girl was reported to have a notch in the upper alveolar ridge.


๐Ÿ“œ SIMILAR VOLUMES


Further delineation of cerebro-osteo-nep
โœ Udler, Yevgenia; Halpern, Gabrielle J.; Sher, Carron; Davidovitz, Miriam; Shohat ๐Ÿ“‚ Article ๐Ÿ“… 1997 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 15 KB ๐Ÿ‘ 1 views

We describe an Israeli Jewish child of Yemenite origin who may be affected with ''cerebro-osteo-nephrosis.'' She is short of stature (height below 3rd centile) due to skeletal abnormalities. She has minor anomalies and borderline intelligence. There is marked proteinuria and she is in kidney failure

Pfeiffer syndrome type 2: Further deline
โœ Plomp, Astrid S.; Hamel, Ben C.J.; Cobben, Jan M.; Verloes, Alain; Offermans, Jo ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 36 KB ๐Ÿ‘ 2 views

We present 5 unrelated patients, 3 boys and 2 girls, with Pfeiffer syndrome (PS) type 2. They all had cloverleaf skull, severe proptosis, ankylosis of the elbows, broad thumbs and/or broad halluces and variable accompanying anomalies. We review the literature on all subtypes of PS. Most patients wit

Osteosclerosis, hypoplastic nose, and pr
โœ Shalev, Stavit A.; Shalev, Eliezer; Reich, Dan; Borochowitz, Zvi U. ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 27 KB ๐Ÿ‘ 1 views

We describe a newborn girl with a lethal sclerosing bone dysplasia leading to prenatal skeletal alterations and microcephaly, proptosis, hypoplastic nose and midface, small jaw, cleft palate, hypertrophied gums, intracranial calcifications, and generalized osteosclerosis. There is a remarkable simil

Elattoproteus syndrome: Delineation of a
โœ Happle, Rudolf ๐Ÿ“‚ Article ๐Ÿ“… 1999 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 36 KB ๐Ÿ‘ 1 views

A 7-year-old boy had partial lipohypoplasia and patchy dermal hypoplasia involving large areas of his body. These areas of deficient growth were similar to those described in many cases of Proteus syndrome. Paradoxically, however, he had only few and rather mild lesions of disproportionate overgrowt

Sacral tumors in Schinzel-Giedion syndro
โœ McPherson, Elizabeth; Clemens, Michele; Hoffner, Lori; Surti, Urvashi ๐Ÿ“‚ Article ๐Ÿ“… 1998 ๐Ÿ› John Wiley and Sons ๐ŸŒ English โš– 9 KB ๐Ÿ‘ 2 views

Recently Antich et al. [1995] reported on a pair of sibs with Schinzel-Giedion syndrome, one of whom had resection of a sacrococcygeal teratoma at 1 month with local recurrence at 14 months. This was the third report of a sacrococcygeal tumor in a patient with Schinzel-Giedion syndrome. In 1994 Rodr