Zobrazeno 1 - 9
of 9
pro vyhledávání: '"K. N. Rosenbaum"'
Publikováno v:
Clinical genetics. 88(6)
Noonan syndrome (NS) and related disorders, such as NS with multiple lentigines (formerly called LEOPARD syndrome), cardiofaciocutaneous syndrome, and Costello syndrome, constitute an important group of developmental malformation syndromes with varia
Autor:
L G Vezina, D A Custer, C. A. Samango‐Sprouse, C Brasseux, M. S. Cohen, D. R. Vaught, K. N. Rosenbaum
Publikováno v:
Journal of Developmental & Behavioral Pediatrics. 21:12-18
This descriptive study examined the relationship between head size, developmental functioning, and neuroimaging findings in children with absolute microcephaly. Subjects, aged 1 to 48 months, were assigned to one of two groups based on occipitofronta
Autor:
H. M. Saal, K. N. Rosenbaum, M. S. Cohen, C. A. Samango‐Sprouse, D. R. Vaught, D. A. Custer, C. J. Tifft, H. J. Stern
Publikováno v:
American Journal of Medical Genetics. 60:535-540
We studied the neurodevelopmental profile of infants and toddlers with oculo-auriculo-vertebral spectrum (OAV) and determined if certain physical manifestations were indicative of a poor neurodevelopmental prognosis. Twenty-four patients with OAV, ag
Autor:
R B, Glass, K N, Rosenbaum
Publikováno v:
American journal of medical genetics. 69(1)
Acampomelic campomelic dysplasia (ACD) is a rare genetic syndrome affecting bone and connective tissue. This syndrome is a variant of the more commonly encountered campomelic dysplasia but is characterized by the absence of long bone curvature (acamp
Publikováno v:
Journal of ultrasound in medicine : official journal of the American Institute of Ultrasound in Medicine. 13(6)
Osteogenesis imperfecta is a heterogeneous group of disorders of type I collagen with both lethal and nonlethal forms. Prenatal sonographic findings in affected fetuses are variable and depend on the severity of the disease. Six cases of osteogenesis
Publikováno v:
Pediatric radiology. 23(8)
A cystic fetal chest mass showing spontaneous improvement in utero is described. This mass was shown to be an extralobar pulmonary sequestration with associated cystic adenomatoid malformation type 2.
Publikováno v:
Teratology. 33(2)
Human trisomies 13, 18, and 21 exhibit specific neuromuscular phenotypes (Pettersen and Bersu, '82) which include a high proportion of neuromuscular forelimb variations, many of which are atavistic in nature (de Beer, '58; Barash et al., '79; Aziz, '
Publikováno v:
Obstetrics and gynecology. 55(6)
In patients with congenital adrenal hyperplasia (CAH) due to 21-hydroxylase deficiency, the concentrations of the cortisol precursor 17-alpha hydroxyprogesterone (17-OHP) and its metabolite delta 4-androstenedione (delta 4 A) are increased. CAH was d
Autor:
K N, Rosenbaum, B, Weisskopf
Publikováno v:
The Journal of the Kentucky Medical Association. 69(8)