Introduction. Johanson-Blizzard syndrome is a very rare genetic disorder caused by mutation of the ubiquitin protein ligase E3 component N-recognin 1 (UBR1). Clinical diagnosis based on pathognomonic combination congenital exocrine pancreatic insufficiency with facial dysmorphology (nasal wing hypo/aplasia, and oligodontia permanent teeth). Diagnosis confirmed screening UBR1 gene. The purpose t...

BACKGROUND Conventional studies of the cleft lip/palate (CLP) dysmorphology have mainly focused on deformities of the lip, nose, and maxilla, while ignoring the mandible. Reasons for that were the lack of well-defined mandibular deformity and restriction from the research methodology. METHODS This study used 3-dimensional computed tomography (CT) imaging data from 35 patients with unilateral ...

Glutamate is the most abundant excitatory neurotransmitter in the central nervous system, and is stored and released by both neurons and astrocytes. Despite the important role of glutamate as a neurotransmitter, high levels of extracellular glutamate can result in excitotoxicity and apoptosis. Monosodium glutamate (MSG) is a naturally occurring sodium salt of glutamic acid that is used as a fla...

The brief history of the Smith-Lemli-Opitz syndrome (SLOS) (MIM 270400) reflects that of latter 20th century dysmorphology and biochemical and molecular genetics: from its first description as a rare but characteristic multiple malformation syndrome known only to a handful of dysmorphologists, to a relatively common Garrodian defect with a complex molecular basis that has captured the attention...

BACKGROUND/PURPOSE More than forty percent of patients with pectus excavatum have a family history of chest deformity. However, no studies of the frequency of the different phenotypes of pectus excavatum have been published. METHODS A random sample of 300 non-syndromic pectus excavatum patients, from the chest wall deformities clinic at Children's Hospital of The King's Daughters in Norfolk, ...

This study expands our understanding of the organization of the human caudal pons, providing a morphologic characterization of the medial superior olivary nucleus (MSO), component of the superior olivary complex (SOC) that plays an important role in the processing of acoustic information. We examined victims of sudden unexplained fetal and infant death and controls (n = 75), from 25 gestational...

BACKGROUND Although a role for early developmental disturbance(s) in schizophrenia is postulated, it has proved difficult to identify hard, biological evidence. The brain and face emerge in embryologic intimacy, such that in neurodevelopmental disorders, brain dysmorphogenesis is accompanied by facial dysmorphogenesis. METHODS Three-dimensional (3D) laser surface imaging was used to capture t...

Data from 1,261 Chinese Autistic Spectrum Disorder (ASD) patients were evaluated and categorized into dysmorphic (10.79 %) and non-dysmorphic groups (89.21 %) upon physical examination by the presence of dysmorphic features. Abnormal MRI/CT result, IQ scores and epilepsy were significantly associated with the dysmorphic group of ASD children. However, gender, EEG abnormality and family history ...

M oday, O cber 9, 2017 in their practices to help patients understand what their surgical result following rhinoplasty may look like. The development of polymer filaments, laser, and computer-aided design has permitted the creation of three-dimensional (3D) scanning and printing technology. Most recently, 3D domestic scanning and printing has become available. This new technology allows the sur...

High levels of alcohol (ethanol) exposure during fetal life can affect liver development and can increase susceptibility to infection after birth. Our aim was to determine the effects of a moderate level of ethanol exposure in late gestation on the morphology, iron status, and inflammatory status of the ovine fetal liver. Pregnant ewes were chronically catheterized at 91 days of gestation (DG; ...