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    摘要 : The frequent occurrence of congenital heart defects (CHDs) in chromosome abnormality syndromes is well-known, and among aneuploidy syndromes, distinctive patterns have been delineated. We update the type and frequency of CHDs in t... 展开

    [期刊]   SwibelRosenthal,L.H.   Caballero,N.   Drake,A.F.   《Otolaryngologic Clinics of North America》    2012年45卷3期      共21页
    摘要 : This review describes important aspects of the most commonly encountered craniofacial syndromes. The goal is to provide otolaryngologists and other health care providers with critical information necessary to manage these patients... 展开

    摘要 : Syndromic craniosynostosis is rare, occurring in 1:30,000 to 1:100,000 live births.

    摘要 : Purpose The most commonly occurring syndromic craniosynostoses are Apert syndrome, Crouzon syndrome, Pfeiffer syndrome, and Saethre-Chotzen syndrome. There is insufficient data regarding postoperative syndrome-related outcomes fol... 展开

    摘要 : The 3MC syndromes are a group of rare autosomal recessive disorders where the main clinical features are cleft lip and palate, hypertelorism, highly arched eyebrows, caudal appendage, postnatal growth deficiency, and genitourinary... 展开

    摘要 : On the other hand, epidemiological studies will most often include much larger populations, and since the three countries, providing such studies in the area of SCAs, can present nationwide sampling, these studies can also be seen... 展开

    摘要 : Abstract Segmental infantile hemangiomas affecting the upper body are associated with PHACE(S) (Posterior fossa anomalies, Hemangioma, Arterial anomalies, Cardiac anomalies, Eye anomalies, and Sternal defects) syndrome, whereas se... 展开

    摘要 : RASopathies are a group of genetic disorders due to dysregulation of the RAS-MAPK signaling pathway, which is important in regulating cell growth, proliferation, and differentiation. These include Noonan syndrome (NS), Noonan synd... 展开

    [期刊]   Kay Metcalfe   《Paediatrics and child health》    2018年28卷12期      共5页
    摘要 : Congenital heart disease affects around 0.7% of liveborn infants and is the most frequent cause of death from congenital malformations. This review will consider some of the commoner genetic syndromes associated with congenital he... 展开

    摘要 : Infantile hemangiomas (IH) are the most common vascular tumor of infancy with an estimated 80,000 annual diagnoses in the United States. The genetic mechanisms underlying IH and the related multi-organ birth defect syndromes, PHAC... 展开

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