نتایج جستجو برای: microstomia
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Restrictive dermopathy (RD), also called tight skin contracture syndrome (OMIM 275210), is a rare disorder mainly characterized by intrauterine growth retardation, tight and rigid skin with erosions, prominent superficial vasculature and epidermal hyperkeratosis, facial features (small mouth, small pinched nose and micrognathia), sparse/absent eyelashes and eyebrows, mineralization defects of t...
Linkeropathies are a group of syndromes characterized by short stature, radio-ulnar synostosis, decreased bone density, congenital contractures and dislocations, joint laxity, broad digits, brachycephaly, small mouth, prominent eyes, short or webbed neck, congenital heart defects and mild developmental delay. Linkeropathies are due to enzymatic defects in the synthesis of the common linker regi...
INTRODUCTION Recent evidence has emerged linking mutations in CDK13 to syndromic congenital heart disease. We present here genetic and phenotypic data pertaining to 16 individuals with CDK13 mutations. METHODS Patients were investigated by exome sequencing, having presented with developmental delay and additional features suggestive of a syndromic cause. RESULTS Our cohort comprised 16 indi...
T reacher-Collins syndrome (TCS) or mandibular dysostosis, is a rare autosomal dominant craniofacial malformation that has been described extensively in the scientific literature, 1 with more than 250 cases reported. 2 Most reports to date have focused on the facial morphology of this syndrome: antimongoloid slanting of palpebral fissures, malformed auricles, mandibular and zygomatic bone hypop...
© 2017 Indian Dermatology Online Journal | Published by Wolters Kluwer Medknow Ectodermal dysplasias are a heterogeneous group of disorders resulting from abnormalities of structures derived from embryonic ectoderm (skin, teeth, and appendage). Rapp Hodgkin Syndrome (RHS) is a type of anhidrotic ectodermal dysplasia, which was described by Rapp and Hodgkin in 1968.[1] This syndrome is character...
This case report presents a coincidence of trisomy 18 and balanced Robertsonian translocation (13;14). Aneuploidy was suspected based on anomalies detected in ultrasound scan and confirmed with karyotype. In a 31 years-old healthy woman with a history of one miscarriage, second trimester ultrasound scan reported IUGR (<3rd percentile) with normal amniotic fluid, bilateral choroid plexus cysts, ...
The DiGeorge, Velocardiofacial, and Conotruncal Anomaly Face syndromes (DGS/VCFS/CTAF) are knowncollectively as the 22q11.2 deletion syndrome (22q11 DS) [Shaikh et al., 2000; Swillen et al., 2000]. Although most individuals have the same large 3 Mb 22q11.2 de novo deletion, a recurrent 1.5–2 Mb proximally nested deletion is more common in familial cases of 22q11.2 DS [Iascone et al., 2002; Adey...
Dear Editor, Hallermann-Streiff Syndrome (HSS) is a rare genetic condition with multiple systemic involvement chiefly affecting the head and face and includes seven basic signs: dyscephalia and bird-like face, proportionate dwarfism, dental anomalies, atrophy of skin (especially on the nose), hypotrichosis, microphthalmia and congenital cataracts [1,2]. The Brown-McLean Syndrome (BMLS) is a cli...
A 5-month-old male infant presented with weak cry, decreased body movements, tightness of whole body since birth, and one episode of generalized seizure on day 4 of life. He was born at term by elective caesarian section performed for breech presentation. The child had failure to thrive, contractures at elbow and knee joints, hypertonia, microcephaly, small mouth, retrognathia, and camptodactyl...
Meier-Gorlin syndrome (MGS) is a rare autosomal recessive primordial dwarfism disorder, characterized by microtia, patellar applasia/hypoplasia, and a proportionate short stature. Associated clinical features encompass feeding problems, congenital pulmonary emphysema, mammary hypoplasia in females and urogenital anomalies, such as cryptorchidism and hypoplastic labia minora and majora. Typical ...
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