Zobrazeno 1 - 10
of 64
pro vyhledávání: '"R S, Lachman"'
Autor:
N, Badiner, S P, Taylor, K, Forlenza, R S, Lachman, M, Bamshad, D, Nickerson, D H, Cohn, D, Krakow
Publikováno v:
Clinical genetics. 92(2)
The short-rib polydactyly syndromes (SRPS) are autosomal recessively inherited, genetically heterogeneous skeletal ciliopathies. SRPS phenotypes were historically categorized as types I–IV, with type I first delineated by Saldino and Noonan in 1972
Publikováno v:
Archives of Disease in Childhood - Fetal and Neonatal Edition. 88:521F-524
Objective: To examine the yield of radiographic abnormalities in a population based set of perinatal deaths, the diagnostic value of whole body postmortem radiographs in the same set, and previous factors that may increase the proportion of useful ex
Publikováno v:
Clinical genetics. 68(6)
Pachydermoperiostosis (PDP) is a rare genodermatosis, characterized by pachydermia, digital clubbing, periostosis and an excess of affected males. Although an autosomal dominant model with incomplete penetrance and variable expression has been proved
Autor:
D N, Schweitzer, J M, Graham, R S, Lachman, E W, Jabs, K, Okajima, K A, Przylepa, A, Shanske, K, Chen, J A, Neidich, W R, Wilcox
Publikováno v:
American journal of medical genetics. 98(1)
A unique type of craniofacial dysostosis, Crouzon syndrome with acanthosis nigricans (CAN), has been attributed to a specific substitution (Ala391Glu) in the fibroblast growth factor receptor 3 (FGFR3) gene. At birth, individuals with this disorder h
Autor:
V, Cormier-Daire, R, Savarirayan, R S, Lachman, J A, Neidich, K, Grace, D L, Rimoin, W R, Wilcox
Publikováno v:
American journal of medical genetics. 100(1)
We report an apparently previously undescribed lethal skeletal dysplasia, clinically resembling achondrogenesis, but with distinct radiologic and chondro-osseous morphologic features. These comprise bifid distal ends of the long bones of the limbs, a
Publikováno v:
American journal of medical genetics. 95(5)
We report on 3 patients (2 sibs and an unrelated adult woman) with scapuloiliac dysostosis (Kosenow syndrome, Pelvis-Shoulder Dysplasia) each of whom has additional abnormalities not previously reported in the literature. The clinical spectrum of thi
Autor:
R, Savarirayan, V, Cormier-Daire, S, Unger, R S, Lachman, P J, Roughley, S F, Wagner, D L, Rimoin, W R, Wilcox
Publikováno v:
American journal of medical genetics. 95(3)
Oto-palato-digital syndrome type II (OPD II) is a lethal X-linked skeletal dysplasia with pleiotropic manifestations. The basic defect is not known. There has been only one detailed report of the chondro-osseous abnormalities in this condition descri
Publikováno v:
American journal of medical genetics. 95(3)
We report on three male patients from a single family with a brachyturricephaly, "pugilistic" facial appearance, a muffled voice, cardiomyopathy, muscular hypertrophy, broad hands, wide feet with progressive pes cavus deformities, dislocation of toes
Autor:
R, Savarirayan, V, Cormier-Daire, C J, Curry, M B, Nashelsky, V, Rappaport, D L, Rimoin, R S, Lachman
Publikováno v:
American journal of medical genetics. 94(1)
We report on two unrelated, sporadic cases of a mesomelic dysplasia characterized by absence of fibulae and severely hypoplastic, triangular-shaped tibiae. Moderate mesomelic shortness was present in the upper limbs with proximal widening of the ulna
Publikováno v:
Human mutation. 12(5)
Thanatophoric dysplasia (TD) is one of the most common neonatal lethal skeletal dysplasias with micromelic shortening of the limbs, relative macrocephaly, flat vertebral bodies and a narrow thorax. TD has been divided into two types, type I (TD1) and