Respiratory Involvement in HIST1H1E‐Related Rahman Syndrome: A Case of Severe Mixed Apnea
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Rahman syndrome (HIST1H1E‐related neurodevelopmental syndrome, OMIM #617537) is a rare autosomal‐dominant condition caused by truncating variants in the C‐terminal domain of the HIST1H1E gene. It is characterized by macrocephaly, hypotonia, craniofacial anomalies, and multisystem anomalies.
Nada Barakat +4 more
wiley +1 more source
A Newborn with Icthyosis, Corpus Callosum Hypoplasia, Microcephaly, Atrichia and Intra Uterine Growth Retardation (IUGR): AVariant of Icthyosis Follicularis Atrichia Photophobia (IFAP) or Brain Anomalies, Retardation, Ectodermal Dysplasia, Skeletal Deformities, Hirschsprung Disease, Ear/Eye Anomalies, Cleft Palate, Cryptorchidism (BRESHECK)? [PDF]
Journal of Krishna Institute of Medical Sciences University, 2017 A full term newborn small for gestational age Intra Uterine Growth Retardation (IUGR) admitted with congenital dysmorphic features with icthyosis, atrichia, microcephaly and eye abnormalities, when explored further for other congenital malformations,
Gurudutt S. Joshi +2 more
doaj
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT The KDM2B‐related neurodevelopmental disorder is a recently identified Mendelian disorder of the epigenetic machinery associated with pathogenic variants in KDM2B. Global developmental delay, intellectual disability, congenital anomalies, and systemic manifestations characterize the disorder.
Adriana Gomes +3 more
wiley +1 more source
A New Skin Graft Donor Site Using the Abdominal Dog-Ear Deformity in Mastectomy Flap Necrosis [PDF]
, 2018 Jong Hyun Choi, Deuk Young Oh
openalex +1 more source
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Marden–Walker syndrome (MWS; OMIM 248700) is an extremely rare congenital disorder characterized by multiple joint contractures, craniofacial dysmorphism, neurological abnormalities, and multisystem involvement. Although historically diagnosed on clinical grounds, only a few cases have been molecularly confirmed.
Guilherme Sotto Battiston +35 more
wiley +1 more source
The Turkish Journal of Pediatrics, 2011 The objective of the current study was to detect the prevalence of developmental anomalies of the external ear among children between aged 4-6 years old in Sivas, Turkey.
Emine Elif Altuntaş +3 more
doaj
More is less?! Reducing dog ear deformities for transposition flaps on the scalp. [PDF]
Ann R Coll Surg Engl, 2020 Yim GH, Taylor CJ.
europepmc +1 more source
Novel MYL1 Intron Variant With Expanded Phenotype
American Journal of Medical Genetics Part A, EarlyView.ABSTRACT Congenital myopathy‐14 (CMYO14) is an ultrarare autosomal recessive disorder caused by biallelic variants in MYL1, with only four patients reported to date. We describe what is likely the fifth reported patient, a neonate with severe hypotonia, respiratory insufficiency, and skeletal anomalies showing distinct histological changes of skeletal ...
Maria Barington +7 more
wiley +1 more source
Prevention, Reduction, and Stabilization of Dog-Ear Deformities During Arthroscopic Rotator Cuff Repair. [PDF]
Arthrosc Tech, 2020 Owen MT, Loy BN, Guttmann D, Reid JB.
europepmc +1 more source