Results 61 to 70 of about 3,428 (220)

Whistling face (Freeman-Sheldon) syndrome in two siblings

The Turkish Journal of Pediatrics, 1994
Two siblings with typical manifestations of whistling face (Freeman-Sheldon) syndrome (WFS) born to unaffected parents are presented. In Case 1, deep-set eyes, epicanthus, blepharophimosis, right lid ptosis, strabismus, anti mongoloid slant, small
N Bekir, Z Bayraktaroğlu, Y Coşkun, C Karaaslan   +3 more
doaj  

Severe Megaloblastic Anaemia in an Infant [PDF]

, 2011
Vitamin B 12 or cobalamin deficiency, a rare clinical entity in pediatric age, is found most exclusively in breastfed infants, whose mothers are strictly vegetarian non-supplemented or with pernicious anaemia.
Brito, MJ, Cordeiro Ferreira, G, Dias, A, Galvão, I, Rodrigues, V   +4 more
core   +2 more sources

Non‐RASopathy Genetic Syndromes Identified as the Molecular Cause of Disease in Patients Previously Diagnosed With Noonan Syndrome

American Journal of Medical Genetics Part A, Volume 200, Issue 3, Page 661-672, March 2026.
ABSTRACT Noonan Syndrome (NS) is a clinically and genetically heterogeneous condition characterized by typical facial dysmorphisms, short stature, congenital heart defects, and developmental delays. While variants in genes such as PTPN11, SOS1, and RAF1 account for most genetically confirmed cases, diagnosis is challenging due to phenotypic overlap ...
Gabriela Jeesoo Kim, Alexsandra Christianne Malaquias, Debora Romeo Bertola, Raissa Carneiro Rezende, Laurana De Polli Cellin, Lucas Vieira Lacerda Pires, Ana Maria Santillan‐Vasconez, Antônio Marcondes Lerario, Renata da Cunha Scalco, Alexander Augusto de Lima Jorge   +9 more
wiley   +1 more source

Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES): A case report

Journal of Clinical and Translational Endocrinology Case Reports, 2020
Blepharophimosis, ptosis and epicanthus inversus syndrome (BPES) is an extremely rare genetic developmental condition, with hallmark findings of ocular malformation. It has two subtypes, both of which include the eponymous oculofacial features.
Sabiha Banu, Abdul Aziz, Salman Kirmani, Sarah Nadeem   +3 more
doaj   +1 more source

Foxl2 gene and the development of the ovary : a story about goat, mouse, fish and woman [PDF]

, 2005
In this review, we describe recent results concerning the genetics of sex determination in mammals. Particularly, we developed the study of the FOXL2 gene and its implication in genetic anomalies in goats (PIS mutation) and humans (BPES).
Baron, Daniel, Batista, Frank, Chaffaux, Stéphane, Cocquet, Julie, Cotinot, Corinne, Cribiu, Edmond, De Baere, Elfride, Fellous, Marc, Guiguen, Yann, Jaubert, Francis, Pailhoux, Eric, Pannetier, Maëlle, Vaiman, Daniel, Veitia, Reiner, Vigier, Bernard   +14 more
core   +4 more sources

Ontogeny of RSPO1, FOXL2, and RUNX1 during ovarian differentiation in the marsupial tammar wallaby

Developmental Dynamics, Volume 255, Issue 3, Page 340-361, March 2026.
Abstract Background RSPO1 and FOXL2 are female sex‐determining genes involved in the differentiation and organization of the ovary in some eutherian mammals. Mutations or loss of function of these genes are associated with partial to full sex reversal in mice, humans, and goats.
Monika R. Paranjpe, Yu Chen, Geoff Shaw, Marilyn B. Renfree   +3 more
wiley   +1 more source

Glomerulopathy in patients with distal duplication of chromosome 6p [PDF]

, 2016
Background: Duplication of the distal part of chromosome 6p is a rare genetic syndrome. Renal involvement has been reported in the majority of patients, including a wide range of congenital abnormalities of kidney and urinary tract and, occasionally, a ...
Bernaciak, Joanna, Bjerre, Anna, Jankauskienė, Augustina, Koczkowska, Magdalena, Lipska-Ziętkiewicz, Beata S., Schaefer, Franz   +5 more
core   +1 more source

Zinc Deficiency Disrupts Germ Cell Nest Breakdown During In Vitro Ovary Culture

Molecular Reproduction and Development, Volume 93, Issue 2, February 2026.
ABSTRACT In mammals, the size of the non‐renewable primordial follicle pool is established before or soon after birth. Primordial follicles, each composed of a single oocyte surrounded by somatic cells, are the only source of gametes during the entire reproductive lifespan of the female.
James M. Hester, Suzanne M. Getman, Melissa E. Pepling, Francisco J. Diaz   +3 more
wiley   +1 more source

KAT6B Genetic Variant Identified in a Short Stature Chinese Infant: A Report of Physical Growth in Clinical Spectrum of KAT6B-Related Disorders

Frontiers in Pediatrics, 2020
Say-Barber-Biesecker-Young-Simpson syndrome (SBBYSS, OMIM#603736) and genitopatellar syndrome (GTPTS, OMIM#606170), characterized by global developmental delay/intellectual disability and special clinical manifestations, are two distinct clinically ...
Liuyan Zhu, Liuyan Zhu, Lina Lv, Lina Lv, Dingwen Wu, Dingwen Wu, Jie Shao, Jie Shao   +7 more
doaj   +1 more source

Refining the Neonatal Phenotypic Spectrum of Distal Deletion 14q Syndrome: Early Genomic Diagnosis in Infancy

Congenital Anomalies, Volume 66, Issue 1, January/December 2026.
ABSTRACT Distal deletion 14q syndrome is a rare chromosomal disorder characterized by variable features, including growth restriction, craniofacial dysmorphism, developmental delay, and congenital anomalies. Diagnosis is often delayed because conventional G‐banding may appear normal.
Koji Nakae, Shiori Hamada, Junpei Kawamura, Kentaro Ueno, Toshiki Takenouchi, Yasuhiro Okamoto   +5 more
wiley   +1 more source