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Assessing Pubertal Timing, Duration, and Related Characteristics in ASXL‐Related Disorders: A Cross‐Sectional Caregiver Survey Analysis

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Limited studies have been conducted on pubertal development in populations with pre‐existing medical conditions. More than 20‐fold increased risk of early puberty has been reported in neurodevelopmental disorders; however, this is a heterogeneous group.
Amanda Piring +4 more
wiley +1 more source

Absence of Syndactyly Associated With the Common Apert FGFR2 S252W Mutation: A Clinical Report and Likely Molecular Explanation

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Apert syndrome is a recognizable craniofacial condition characterized by craniosynostosis, hypertelorism, exorbitism, midface hypoplasia, and complex symmetrical bony and cutaneous ‘mitten’ syndactyly of all four limbs. Around 98% of affected patients have one of two heterozygous missense variants in the FGFR2 gene, encoding either p ...
Ramy Saad +8 more
wiley +1 more source

Pulmonary Agenesis - A Zebra Like Disorder for Pulmonologists

Journal of Association of Pulmonologist of Tamil Nadu, 2018
Pulmonary agenesis is an extremely rare congenital anomaly defined as a complete absence of the lung parenchyma, bronchus, and pulmonary vessels. In case of complete unilateral agenesis, no pleural cavity can be found on the affected side.
Monisha Anandhan, Amal Johnson, R Narasimhan +2 more
doaj

Becker's nevus syndrome with bilateral skin involvement

Dermatologica Sinica, 2014
Becker’s nevus syndrome is a rare disorder characterized by Becker's nevus associated with developmental anomalies, such as hypoplasia of the ipsilateral breast or other cutaneous, muscular, or skeletal defects.
L.U. Rongbiao, M.A. Han, L.U. Chun, L.A.I. Wei +3 more
doaj +1 more source

Cone Beam CT Evaluation of Bilateral Maxillary Sinus Hypoplasia with Unilateral Mandibular Hypertrophy

Journal of Orofacial Sciences, 2020
Maxillary sinus hypoplasia (MSH) is a rare condition characterized by underdevelopment or decrease in the volume of the maxillary sinus. It is thought that MSH may be embryological in origin but acquired etiologies have also been discussed in the ...
Mohammed Bindakhil, Mel Mupparapu
doaj +1 more source

Optic nerve hypoplasia

Oman Journal of Ophthalmology, 2013
Optic nerve hypoplasia (ONH) is a congenital anomaly of the optic disc that might result in moderate to severe vision loss in children. With a vast number of cases now being reported, the rarity of ONH is obviously now refuted. The major aspects of ophthalmic evaluation of an infant with possible ONH are visual assessment, fundus examination, and ...
Kamlesh +4 more
openaire +3 more sources

Case Series of Nizon‐Isidor Syndrome by Heterozygous Variants in MED12L With Further Evidence of Mitotic Instability in One Case With Diploid–Triploid Mosaicism

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Nizon‐Isidor syndrome is a rare disorder caused by heterozygous variants in MED12L, with only eight documented cases in the literature. Here, we present three additional cases of this syndrome. Proband 1 was a 7‐year‐old female who presented with developmental delay, right‐leg hemihypertrophy, laryngeal cleft, esotropia, abnormal skin ...
Russell Stewart +336 more
wiley +1 more source

Remodeling of extracranial veins and venous-arterial imbalance in extrinsic stenosis and hypoplasia of the internal jugular veins

Сибирский научный медицинский журнал
The aim of the study was to compare hemodynamic parameters, the sequence of remodeling of the jugular and extrajugular outflow tracts of cerebral venous circulation in extrinsic stenosis and hypoplasia of the internal jugular vein (IJV).
S. E. Semenov +3 more
doaj +1 more source

Basal Metabolic Requirements, Biomarkers of Cardiometabolic Health, and Anthropometric Measures of Obesity in Women and Men With Restricted Growth Conditions

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Population‐specific thresholds have not been defined for the levels of adiposity and systemic biomarkers that predict chronic health risks in people with restricted growth conditions. Here, anthropometric measures of adiposity, basal metabolic requirements, and fasted blood samples were obtained from adults with restricted growth (age 41 ± 14 ...
Lucy H. Merrell +7 more
wiley +1 more source

On the Problem of Disorders in the Formation of Hard Dental Tissues and Teeth Eruption

Česká Stomatologie a Praktické Zubní Lékařství, 2010
The paper deals with the problem of hypoplastic and hypomineralization changes of tooth enamel in permanent teeth. Localized defects in hard of tissues of permanent teeth may originate on the basis of periapical dental tissues inflammatory lesions in ...
V. Merglová
doaj +1 more source

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