Results 51 to 60 of about 59,855 (260)

Descriptive Epidemiology From the Myhre Syndrome Foundation Registry: The Value of Self‐Reported Data

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is an ultrarare genetic disease characterized by short stature, distinct craniofacial features, cardiovascular and respiratory fibrosis and stenosis, neurodevelopmental delays, autism, intellectual disability, and hearing loss. The natural history of Myhre syndrome is still not fully understood due to a small patient population ...
Mary K. Young, Armelle Pindon, Maggie R. Brand, Kate Wears, Katherine H. Young, Alyssa Mendel, Michael J. Lyons   +6 more
wiley   +1 more source

A Novel Voxel-based Technique for 3-Dimensional Transparent Visualization of Lip–Nasal Vasculature

Plastic and Reconstructive Surgery, Global Open
Summary:. Conventional imaging cannot capture the spatial relationship between soft tissue and vasculature in patients with cleft lip. Here, a novel technique integrating micro–computed tomography imaging with voxel-based 3-dimensional reconstruction was
Hongru Zhou, MD, Yu Yao, MD, Congxiao Zhu, MD, Leheng Jiang, MD, Yilue Zheng, MD, Hengyuan Ma, MD, Liya Jiang, MD, Ningbei Yin, MD   +7 more
doaj   +1 more source

Profile of post operative cleft lip and palate in aceh cleft lip and palate center period of November 2018 - October 2019

JKS (Jurnal Kedokteran Syiah Kuala), 2022
Cleft Lip and Cleft Palate or Orofacial Cleft, which is known as the cleft lip is a condition of birth defects where an unusual opening or cleft is formed on the lips or palate.1 Cleft lip or labioschisis is a congenital anomaly that formed in the first ...
Syamsul Rizal, Mirnasari Amirsyah, T. Romi Imansyah Putra, Rezania Razali, Doni Permana Putra   +4 more
doaj   +1 more source

Aesthetic satisfaction in lip and palate clefts: a comparative study between secondary and tertiary bone grafting [PDF]

, 2018
Lip and palate cleft represent one of the most frequently occurring congenital deformity, which includes dental anomalies, such as variation in tooth number and position.
Brauner, E, De Angelis, F, Di Carlo, S, Jamshir, S, Mezi, S, Pompa, G, Quarato, A, Tiroli, R C   +7 more
core   +1 more source

Spectrum of Congenital Anomalies in Myhre Syndrome—Insights Into Effects Brought by Altered TGF‐β Signaling via Gain‐of‐Function Variants in SMAD4

American Journal of Medical Genetics Part C: Seminars in Medical Genetics, EarlyView.
ABSTRACT Myhre syndrome is a rare genetic disorder characterized by progressive multisystem involvement. Gain‐of‐function missense heterozygous variants affecting the Ile500 residue and Arg496 residue of the SMAD4 gene are implicated in this condition.
Kawmadi Gunawardena, Alessandro De Falco, Deborah Osio, Eleanor Sherlock, Emma Kivuva, Erina Sasaki, Francis H. Sansbury, Nayana Lahiri, Patricia Foley, Sahar Mansour, Shane McKee, Tazeen Ashraf, Nicola Brunetti‐Pierri, Usha Kini   +13 more
wiley   +1 more source

Prevalence of cleft lip and/or cleft palate in Guangdong province, China, 2015–2018: a spatio-temporal descriptive analysis

BMJ Open, 2021
Objectives This study aimed to investigate the temporal and spatial characteristics of cleft lip and/or palate based on a large-scale birth defect monitoring database.Methods Data on perinatal infants and children with cleft lip and/or palate defects ...
Pi Guo, Yuliang Chen, Bing Li, Degang Wang, Huazhang Miao, Yingxian Zhu, Qinghui Zeng, Xiaolin Yu, Haisheng Wu, Fenghua Liu   +9 more
doaj   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Impact of early synchronous lip and palatal repair on speech [PDF]

, 2013
<b><i>Aims:</i></b> The purpose of this study was to describe articulation and resonance characteristics of Ugandan English-speaking children with cleft lip and palate (CLP) after synchronous lip and palatal closure (Sommerlad ...
Bettens, Kim, D'haeseleer, Evelien, De Ley, Sophia, Galiwango, George, Hodges, Andrew, Luyten, Anke, Van Lierde, Kristiane, Vermeersch, Hubert   +7 more
core   +1 more source

Description of the skull, braincase, and dentition of Moschognathus whaitsi (Dinocephalia, Tapinocephalia), and its palaeobiological and behavioral implications

The Anatomical Record, EarlyView.
Abstract A subadult Moschognathus whaitsi from the Eastern Cape Province, South Africa, was scanned using synchrotron radiation X‐ray computed tomography (SRXCT). Its subadult state allowed the cranial bones and teeth to be identified and individually reconstructed in 3D.
Tristen Lafferty, Luke A. Norton, Aliénor Duhamel, Julien Benoit   +3 more
wiley   +1 more source

Three-dimensional cephalometric evaluation of maxillary growth following in utero repair of cleft lip and alveolar-like defects in the mid-gestational sheep model [PDF]

, 2006
Objective: To evaluate maxillary growth following in utero repair of surgically created cleft lip and alveolar (CLA)-like defects by means of three-dimensional (3D) computer tomographic (CT) cephalometric analysis in the mid-gestational sheep model ...
Adzick NS, Adzick NS, Bardach J, Canady JW, Canady JW, Christina Jannowitz, Dodson TB, Edgar Biemer, Engdahl E, Evans ML, Hallock GG, Hallock GG, Hans-Florian Zeilhofer, Harrison MR, Hedrick MH, Huhn EA, Julia Henke, Kaban LB, Laszlo Kovacs, Levine JP, Longaker MT, Longaker MT, Longaker MT, Longaker MT, Longaker MT, Molsted K, Moschos A. Papadopoulos, Nikolaos A. Papadopulos, Papadopoulos MA, Papadopoulos MA, Papadopulos NA, Papadopulos NA, Papadopulos NA, Papadopulos NA, Papadopulos NA, Peter Boettcher, Popesko P, Rudolf Stolla, Smith R, Stelnicki EJ, Stelnicki EJ, Stelnicki EJ, Stern M, Stern M, Sullivan WG, Waite DE   +45 more
core   +1 more source