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The psychosocial outcomes of adult siblings of adults with autism and Down syndrome
Outcomes Adult Siblings Autism Down Syndrome Caregiver Burden Health-Related Quality of Life Reported Benefits
2015/1/9
Little is known regarding the psychosocial outcomes of adult siblings of adults with autism. Accordingly, the current study sought to: (1) illuminate factors that predict health-related quality of lif...
Morphological Integration of Soft-Tissue Facial Morphology in Down Syndrome and Siblings
trisomy 21 craniofacial morphology
2014/11/6
Down syndrome (DS), resulting from trisomy of chromosome 21, is the most common live-born human aneuploidy. The phenotypic expression of trisomy 21 produces variable, though characteristic, facial mor...
Two siblings with Netherton syndrome
Netherton syndrome atopic diathesis siblings ichthyosis linearis circumflexa trichorrhexis invaginata
2010/10/14
Netherton syndrome (NS) is a rare genodermatosis characterized by autosomal recessive inheritance pattern, unknown etiology, ichthyosiform cutaneous changes, atopic diathesis, and alterations in the h...
Incidence and severity of vesicoureteral reflux in siblings of children with known reflux
Sibling reflux cystoghraphy
2009/12/25
Background: The incidence of primary vesicoureteral reflux (VUR) is less than 1% in the general normal population, but it is high in siblings of children with VUR, with a reported incidence of 4.7-51%...
Schwartz-Jampel syndrome associated with sensorimotor polyneuropathy:Report of three siblings
Schwartz-Jampel syndrome Polyneuropathy Hypothyroidism
2009/12/24
Schwartz-Jampel syndrome, (SJS) is a rare disorder characterized by myotonia, joint contracture, facial dysmorphism and growth retardation, we present three siblings (two sisters and one brother) 19,2...
Juvenile Hyaline Fibromatosis:Case Presentation (The Rehabilitation of Three Siblings)
Juvenile hyaline fibromatosis recessive hereditary disease papular nodular
2009/6/24
Juvenile hyaline fibromatosis (JHF) is a rare, autosomal recessive hereditary disease. It usually affects one or more siblings, initially presenting in children at 2 to 5 years of age (1). The main cl...
A case report of siblings diagnosed with Papillon-Lefèvre syndrome
Papillon-Lefèvre syndrome generalized periodontitis associated with a genetic disorder cathepsin C gene
2009/5/15
Papillon-Lefèvre syndrome (PLS) is a rare autosomal recessive disease characterized by palmoplantar hyperkeratosis and severe periodontal disease. We reported two siblings with PLS who were diagnosed ...
Case report of 5 siblings: malnutrition? Rickets? DiGeorge syndrome? Developmental delay?
Rickets malnutrition
2008/4/23
Parents of six children are facing a trial on charges of aggravated manslaughter in the care a 5 1/2 month old infant who died suddenly and neglect of their four older children for causing them to be ...
SCINTIGRAPHIC SCREENING IN THE DETECTION OF RENAL SCARRING IN SIBLINGS OF CHILDREN WITH PRIMARY REFLUX
DMSA scintigraphy Vesicoureteral reflux Sibling reflux Renal scarring Children
2010/4/20
The correlation of vesicoureteral reflux (VUR), urinary tract infection (UTI) and renal scarring is well known. Several risk factors for renal parenchymal lesions have been reported previously. We det...