Results 71 to 80 of about 436,684 (219)

Facial dysmorphism, multiple pigmented nevi, osteoporosis, brachydactyly, and other skeletal changes in a male: a new syndrome?

, 2003
A adult male is described with facial dysmorphism, multiple pigmented nevi, osteoporosis, and multiple skeletal anomalies.
Saglam, M, Ulucan, H, Gul, D, Oktenli, C
core   +1 more source

Co‐Occurring Non‐Cardiac Congenital Anomalies Among Cases With Congenital Heart Defects

American Journal of Medical Genetics Part A, EarlyView.
ABSTRACT Cases with congenital heart defects (CHD) often have other associated anomalies. The aim of this investigation was to assess the prevalence and the types of co‐occurring anomalies in CHD in a well‐defined population. The anomalies co‐occurring with CHD were ascertained in all live births, stillbirths and terminations of pregnancy for fetal ...
Claude Stoll, Yves Alembik, Marie‐Paule Roth   +2 more
wiley   +1 more source

Hypertelorism in Charcot-Marie-Tooth disease 1A from the common PMP22 duplication: A Case Report

Oman Medical Journal, 2012
The 1.4Mb tandem-duplication in the PMP22 gene at 17p11.2 usually manifests as hereditary sensorimotor polyneuropathy with foot deformity, sensorineural hearing-loss, moderate developmental delay, and gait disturbance. Hypertelorism and marked phenotypic
Josef Finsterer
doaj  

Derivative 11;22 (Emanuel) Syndrome: A Case Report and A Review

Case Reports in Pediatrics, 2013
Emanuel syndrome (ES) is a rare anomaly characterized by a distinctive phenotype, consisting of characteristic facial dysmorphism, microcephaly, severe mental retardation, developmental delay, renal anomalies, congenital cardiac defects, and genital ...
Madan Gopal Choudhary, Prashant Babaji, Nitin Sharma, Dilip Dhamankar, Gururaj Naregal, Vijay Sunil Reddy   +5 more
doaj   +1 more source

Linking Brain Morphometry to Psychometric Measures and Energy‐Metabolic Biomarkers in Adults With Autism Spectrum Disorder

Autism Research, EarlyView.
ABSTRACT Autism spectrum disorder (ASD) is associated with differences in neurodevelopment and altered metabolism, yet the interplay between brain morphometry, mitochondrial and energy metabolism biomarkers, and autistic traits in adults remains poorly understood. This study investigates the link between brain structure, psychometric measures, and both
Eleonora Esposto, Kathrin Nickel, Dominique Endres, Kimon Runge, Katharina Domschke, Thomas Lange, Marco Reisert, Anke Schumann, Cinzia Niolu, Ludger Tebartz van Elst, Simon Maier   +10 more
wiley   +1 more source

Developmental delay, coarse facial features, and epilepsy in a patient with EXT2 gene variants

Clinical Case Reports, 2019
Key Clinical Message We report a patient with developmental delay, autism, epilepsy, macrocephaly, facial dysmorphism, gastrointestinal, and behavioral issues due to EXT2 compound heterozygous likely pathogenic variants. This case report expands the EXT2
Aditi Gupta, Sarah A. Ewing, Deborah L. Renaud, Linda Hasadsri, Kimiyo M. Raymond, Eric W. Klee, Ralitza H. Gavrilova   +6 more
doaj   +1 more source

Evans syndrome and antibody deficiency: an atypical presentation of chromosome 22q11.2 deletion syndrome

Pediatric Reports, 2010
We report a case of an 8-year-old male patient with Evans syndrome and severe hypogammaglobulinemia, subsequently in whom the 22q11.2 deletion syndrome (22q11.2 DS) was diagnosed.
Gloria Colarusso, Eleonora Gambineri, Elisabetta Lapi, Tommaso Casini, Fabio Tucci, Francesca Lippi, Chiara Azzari   +6 more
doaj   +1 more source

Dystonia, facial dysmorphism, intellectual disability and breast cancer associated with a chromosome 13q34 duplication and overexpression of TFDP1: case report

BMC Medical Genetics, 2013
BackgroundDystonia is a movement disorder characterized by involuntary sustained muscle contractions causing twisting and repetitive movements or abnormal postures.
M. Moscovich, M. LeDoux, Jianfeng Xiao, G. Rampon, Satya R Vemula, R. Rodriguez, K. Foote, M. Okun   +7 more
semanticscholar   +1 more source

Heterozygous Med13l mice recapitulate a developmental growth delay and craniofacial anomalies seen in MED13L syndrome

Developmental Dynamics, EarlyView.
Abstract Background Gene transcription is crucial for embryo and postnatal development and is regulated by the Mediator complex. Mediator is comprised of four submodules, including the kinase submodule (CKM). The CKM consists of MED13, MED12, CDK8, and CCNC.
Anna K. Leinheiser, Timothy T. Nguyen, Kayla M. Henry, Mariela Rosales, Eric Van Otterloo, Chad E. Grueter   +5 more
wiley   +1 more source

A case with ICF syndrome lost to rubella pneumonitis

The Turkish Journal of Pediatrics, 2005
The immunodeficiency, centromeric instability, and facial anomalies (ICF) syndrome is a rare autosomal recessive disorder characterized by variable immunodeficiency, instability of the pericentromeric heterochromatin, and facial dysmorphism.
Ismail Reisli, Mahmut Selman Yildirim, Yavuz Köksal, Mustafa Cihat Avunduk, Aynur Acar   +4 more
doaj