نتایج جستجو برای: craniofacial anomalies

تعداد نتایج: 52309  

Journal: :Journal of medical genetics 1986
R M Pauli B J Pettersen

A single stillborn female with craniofacial, abdominal, and central nervous system malformations was exposed to reserpine during the first six weeks of gestation. Parallels between the malformations present in this infant and those induced in rats through exposure to reserpine at analogous periods of gestation suggest that reserpine may pose specific risks for malformations in some pregnancies.

Journal: :The Cleft palate-craniofacial journal : official publication of the American Cleft Palate-Craniofacial Association 2011
Nooshin Parhizkar Babette Saltzman Kellyn Grote Jacqueline Starr Michael Cunningham Jonathan Perkins Kathleen Sie

OBJECTIVE Describe airway management using nasopharyngeal airway in infants. DESIGN Retrospective case series (1996 to 2006). SETTING Tertiary pediatric hospital. PATIENTS, PARTICIPANTS The craniofacial database of Seattle Children's Hospital was searched to identify patients with one of the following diagnoses: micrognathia, secondary cleft palate, branchial arch anomalies, Pierre Robin ...

Journal: :The Journal of craniofacial surgery 2003
Dane St John Lori Pai Myron L Belfer John B Mulliken

The purpose of this study was to determine rates of divorce in parents of children with various types of craniofacial anomalies and to analyze possible confounding factors. A 29-question survey was sent to parents of all children evaluated in the Craniofacial Centre between 1992 and 1997. Parents were questioned regarding pre- and postnatal marital stability, whether the child's facial anomaly ...

Journal: :Journal of clinical and diagnostic research : JCDR 2013
E Aruna V Kalyan Chakravarthy D Naveen Chandar Rao D Ranga Rao

Holoprosencephaly (HPE), a disorder which results from a failure of cleavage or the incomplete differentiation of the forebrain structures at various levels or to various degrees, is related to hereditary factors, chromosomal anomalies, cytogenetic abnormalities, and environmental teratogenic factors. We are reporting a case of a multiparous woman who was G3,P3,L2, who delivered a full term foe...

2017
Gabriella D'Angelo Lucia Marseglia Salvatore Aversa Sara Manti Caterina Cuppari Mariaconcetta Cutrupi Carmelo Salpietro Eloisa Gitto

Oculoauriculovertebral spectrum, or Goldenhar Syndrome, is a condition characterized by variable degrees of uni- or bilateral involvement of craniofacial structures, ocular anomalies, and vertebral defects. Its expressivity is variable; therefore, the term "expanded Goldenhar complex" has been coined. The Goldenhar Syndrome usually involves anomalies in craniofacial structures, but it is known ...

Journal: :The Journal of craniofacial surgery 2010
Angie Jelin Hazel Perry Jacob Hogue Snehlata Oberoi Philip D Cotter Ophir D Klein

Duplication 9p syndrome (partial trisomy 9p) is characterized by craniofacial anomalies, mental retardation, and distal phalangeal hypoplasia. Here, we present a female patient with microcephaly and incomplete bilateral cleft lip and palate, whose initial cytogenetic analysis revealed a de novo trisomy 9p. The patient, now 21 years old, has persistent microcephaly, craniofacial and hand anomali...

Journal: :Nigerian journal of clinical practice 2016
G I Isiekwe C O Oguchi O O daCosta I L Utomi

INTRODUCTION Craniofacial orthodontics has been shown to be a critical component of the care of patients with craniofacial anomalies such as cleft lip and palate. Thus, the purpose of this study was to assess the perceptions and clinical experience in cleft and craniofacial care, of orthodontic residents in Nigeria. METHODOLOGY Questionnaires were sent out to orthodontic residents in the six ...

حسینی, سید نجات, وکیلی, مسعود, یاری قلی, فهیمه,

Background and Objective: Congenital craniofacial anomalies emerge as changes in structure, function and metabolism at birth. This study aimed to identify congenital malformations of the face and different non-healed and healed craniofacial fractures and their epidemiology in people younger than 18 years in the province of Zanjan. Materials and Methods: This study was carried out on all urba...

Journal: :American journal of medical genetics 1989
J L Gorski B A Cox M Kyine W Uhlmann T W Glover

We describe a boy with severe hypotonia and minor facial anomalies with a terminal deletion of chromosome 2q (46,XY,del(2)(q37)). Comparison with previous cases in the literature indicates that this particular deletion results in infantile hypotonia, developmental delay, and minor craniofacial anomalies including frontal bossing and micrognathia. The absence of true malformations and few minor ...

2016
Jonathan D. J. Labonne Tyler D. Graves Yiping Shen Julie R. Jones Il-Keun Kong Lawrence C. Layman Hyung-Goo Kim

BACKGROUND Among the 21 annotated genes at Xq22.2, PLP1 is the only known gene involved in Xq22.2 microdeletion and microduplication syndromes with intellectual disability. Using an atypical microdeletion, which does not encompass PLP1, we implicate a novel gene GLRA4 involved in intellectual disability, behavioral problems and craniofacial anomalies. CASE PRESENTATION We report a female pati...

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