Zobrazeno 1 - 10
of 64
pro vyhledávání: '"Suh-Jen Chen"'
Autor:
Tsung-Hsin Wu, Trang-Tiau Wu, Yan-Yan Ng, Soo-Cheen Ng, Pen-Hua Su, Jia-Yuh Chen, Suh-Jen Chen
Publikováno v:
Pediatrics and Neonatology, Vol 53, Iss 1, Pp 68-71 (2012)
Herlyn-Werner-Wunderlich (HWW) syndrome is a rare variant of Müllerian duct anomalies consisting of uterine didelphys, obstructed hemivagina, and ipsilateral renal agenesis. Patients with HWW syndrome are usually asymptomatic until menarche, when th
Externí odkaz:
https://doaj.org/article/230dd5207fab4b419ef7a1031af05884
Publikováno v:
Pediatrics and Neonatology, Vol 52, Iss 3, Pp 165-168 (2011)
Interstitial deletion of the proximal short arm of chromosome 4 has rarely been described. This defect is associated with variable clinical manifestations, including mental retardation, unusual facial appearance, and minor limb abnormalities. We desc
Externí odkaz:
https://doaj.org/article/19723a97d63647c5a6a82a3772133e6e
Publikováno v:
Pediatrics and Neonatology, Vol 52, Iss 1, Pp 46-50 (2011)
Structural anomalies associated with partial 2p monosomy are rare. There has only been one case of interstitial deletion of 2p24.2–2p25.1 and three cases of 2p23.3–2p25.1 described in the literature. We report here the first instance of an inters
Externí odkaz:
https://doaj.org/article/8df79319a24844f89f7ba433ed452e9e
Publikováno v:
Pediatrics and Neonatology, Vol 51, Iss 5, Pp 292-295 (2010)
Trisomy 18 is the second most common chromosomal syndrome and has multiple dysmorphic features. However, ocular findings in trisomy 18 are rarely reported. Retinal folds are the most common ocular finding described to date, although retinal hypopigme
Externí odkaz:
https://doaj.org/article/eaac2bcbba384991b990de7e609fc666
Publikováno v:
Pediatrics and Neonatology, Vol 51, Iss 1, Pp 57-60 (2010)
Cerebro-costo-mandibular syndrome (CCMS) consists of severe micrognathia, glossoptosis, posterior rib-gap defects and developmental delay. It may cause upper airway obstruction and flail chest, resulting in neonatal hypoxia, and possibly death. Early
Externí odkaz:
https://doaj.org/article/b17f7a451966497bab8076e2559d1f70
Publikováno v:
Pediatrics and Neonatology, Vol 50, Iss 5, Pp 234-238 (2009)
We report the case of a female infant with Pfeiffer-like syndrome and holoprosencephaly. She had a cloverleaf skull, ocular proptosis, broad thumbs and halluces, and variable accompanying anomalies compatible with Pfeiffer syndrome. She also displaye
Externí odkaz:
https://doaj.org/article/91bd293b724147b8a22e989e65f111b3
Publikováno v:
Pediatrics and Neonatology, Vol 49, Iss 5, Pp 189-192 (2008)
We report on the clinical, cytogenetic, and imaging findings in a patient with a 7q terminal deletion. The 11-year-old girl had mental retardation, microcephaly, a distinctive face, relatively small hands and feet, and sacral dysgenesis. High resolut
Externí odkaz:
https://doaj.org/article/d03a3ea2d2274e1aa1da84f98524b7c1
Publikováno v:
Pediatrics and Neonatology, Vol 49, Iss 3, Pp 84-87 (2008)
The pentalogy of Cantrell was first described in 1958 by Cantrell and coworkers, who reported five cases in which they described a pentad of findings including a midline supraumbilical thoracoabdominal wall defect, a defect of the lower sternum, abno
Externí odkaz:
https://doaj.org/article/c75b6bb452644f548148adc4bef2ae7a
Publikováno v:
Pediatrics and Neonatology, Vol 49, Iss 3, Pp 88-93 (2008)
Terminal deletions of chromosome 6q are rare. Clinical features associated with 6q terminal deletion syndrome include psychomotor retardation, seizures, hypotonia, short neck, and facial abnormalities, as well as various case-specific anomalies. Here
Externí odkaz:
https://doaj.org/article/8f984688b5da4def9b080aa4265d5ae0
Publikováno v:
Pediatrics and Neonatology, Vol 49, Iss 2, Pp 43-47 (2008)
Hydranencephaly is a rare and fatal central nervous system disorder where all or nearly all of the bilateral cerebral hemispheres are absent. The extensive hollow cerebrum is replaced with cerebrospinal fluid. Clinically, the differential diagnoses o
Externí odkaz:
https://doaj.org/article/25becd1dd33c4d11b1d79af193752a68