Results 81 to 90 of about 436,684 (219)

The role of Rho GTPases in facial morphogenesis

Developmental Dynamics, EarlyView.
The role of small GTPases, RHOA, RAC1, and CDC42 and pathway mediators is reviewed in the context of embryonic facial development. Lip fusion requires cytoskeletal remodeling during morphogenesis of the facial processes and during lip fusion. Fnm, frontonasal mass; lnp, lateral nasal process; mnp, medial nasal process; mxp, maxillary process; np, nasal
Isra Ibrahim, Joy M. Richman
wiley   +1 more source

Bilateral developmental cataracts in a child with familial lipodystrophy

Indian Journal of Ophthalmology. Case Reports
Bilateral developmental cataracts are usually caused due to hereditary metabolic disorder or intrauterine infections. Familial lipodystrophy type 7 has variable phenotypes with early-onset cataracts and lower limb spasticity, with most reports showing ...
Sowmya Raveendra Murthy, Kirtika Jain, Simran Hundlani   +2 more
doaj   +1 more source

Facial Dysmorphism in Leigh Syndrome With SURF-1 Mutation and COX Deficiency

, 2006
Leigh syndrome is an inherited, progressive neurodegenerative disorder of infancy and childhood. Mutations in the nuclear SURF-1 gene are specifically associated with cytochrome C oxidase-deficient Leigh syndrome.
Seven, Mehmet, Cetincelik, Ümran, köksal, vedat, Yuksel, Adnan, Yesil, Gözde   +4 more
core   +1 more source

Secretopathies emerge as a new class of neurocristopathies

Developmental Dynamics, EarlyView.
Abstract Neural crest cells are a transient embryonic population of cells that give rise to a wide range of structures, including craniofacial cartilage and bone, peripheral neurons and glia, as well as components of the cardiac outflow tract, among others.
Amanda Teixeira, Cassandra Millet‐Boureima, Joshua A. Moore, Loydie A. Jerome‐Majewska   +3 more
wiley   +1 more source

Warfarin-Associated Diaphragmatic Hernia: An Unusual Diagnosis

Case Reports in Obstetrics and Gynecology, 2015
Fetal warfarin syndrome is a consequence of maternal intake of warfarin during pregnancy and comprises a wide range of manifestations, including some typical facial dysmorphologic features. The authors report a case of prenatal ultrasonographic diagnosis
Cristina Vilhena, Cátia Gameiro, Cláudia Tomás, Antónia Santos, Raquel Ilgenfritz   +4 more
doaj   +1 more source

Siblings With Deletion 22q13.3 and Trisomy 15q26 Inherited From a Maternally Balanced Translocation

Pediatrics and Neonatology, 2011
We describe two siblings with generalized hypotonia, expressive language delay, developmental delay, mild facial dysmorphism, and accelerated growth. In addition, the male sibling had testis dysgenesis.
Pen-Hua Su, Jia-Yuh Chen, Suh-Jen Chen
doaj   +1 more source

A Case of Rafiq Syndrome (MAN1B1-CDG) in a Palestinian Child, With Brief Literature Review of 44 Cases

Journal of Investigative Medicine High Impact Case Reports
Rafiq syndrome, MAN1B1-CDG, was described in 2010 and associated with genetic mutation in MAN1B1 gene in 2011. The disorder follows an autosomal recessive pattern of inheritance and typically presents with specific facial dysmorphism, intellectual ...
Reema Iskafi MD, Bahaa AbuRahmeh MD, Roa’a Aljuneidi MD, Hidaya AlShweiki MD, Siraj Abdelnabi MD, Anas Abukhalaf MBBS, Bara’ Maraqa PBoS   +6 more
doaj   +1 more source

Roles of histone lysine methylation in neurodevelopment and related disorders

Ibrain, EarlyView.
This graphical abstract centers on the theme of dynamic balance and systematically outlines the role of histone lysine methylation in neurodevelopment and related disorders. The figure first presents two key classes of regulators that control this balance—“writers” and “erasers”—and then indicates how interactions among different epigenetic ...
Yun Chen, Yi Zhang, Hong Zhang, Xiaoli Liang   +3 more
wiley   +1 more source

Loss of function mutation in LARP7, chaperone of 7SK ncRNA, causes a syndrome of facial dysmorphism, intellectual disability, and primordial dwarfism

Human Mutation, 2012
Primordial dwarfism (PD) is a clinically and genetically heterogeneous condition. Various molecular mechanisms are known to underlie the disease including impaired mitotic mechanics, abnormal IGF2 expression, perturbed DNA damage response, defective ...
A. Alazami, M. Al-Owain, F. Alzahrani, T. Shuaib, H. Al‐Shamrani, Yahya H. Al-Falki, S. Al-Qahtani, Tarfa H. Alsheddi, D. Çolak, F. Alkuraya   +9 more
semanticscholar   +1 more source

Barber‐say syndrome: a confirmed case of TWIST2 gene mutation

Clinical Case Reports, 2017
Key Clinical Message Barber‐Say syndrome is a rare disorder characterized by hypertrichosis, redundant skin, and facial dysmorphism. TWIST2 gene mutation previously described in this syndrome was identified in our patient.
Mulakkan David Yohannan, Jennifer Hilgeman, Katlin Allsbrook   +2 more
doaj   +1 more source