Results 41 to 50 of about 2,045 (160)

Bloom syndrome sans characteristic facial features in a Mestizo patient- a diagnostic challenge [PDF]

, 2019
Bloom syndrome is a rare dermatosis, clinically diagnosed by characteristic cutaneous features, many of them affecting the face. The expected phenotype is a small for age patient with micrognatia, dolichocephaly, malar erythema, photosensitivity ...
Chávez Álvarez, Sonia, Villarreal Martínez, Alejandra, Isabel Moreno-Vega, LuisDaniel Campos-Acevedo, Herz Ruelas, Maira Elizabeth, Alejandra Villarreal-Martinez, Moreno Vega, Isabel, LauraElia Martinez-de-Villarreal, Ocampo Candiani, Jorge, Sonia Chavez-Alvarez, Jorge Ocampo-Candiani, Ma DelRoble Velasco-Campos, Maira Herz-Ruelas, Martínez de Villarreal, Laura Elia, Velasco Campo, Ma. del Roble, Campos Acevedo, Luis Daniel   +15 more
core   +1 more source

Rethinking brachycephaly: Anatomical implications and health considerations in lagomorphs

The Anatomical Record, EarlyView.
Abstract Brachycephaly in domestic rabbits is increasingly perceived by welfare organizations as associated with significant health complications, particularly oral pathologies. Despite this perception, comparative anatomical research into rabbit brachycephaly is limited compared to that of dogs and cats, compelling an in‐depth examination of its ...
Helaina Cressy, Alice Nishigaki, Matthew C. Gage, Renato L. Previdelli   +3 more
wiley   +1 more source

It Takes Two to Tango: A Pluralist Account for Building Comprehensive Explanations in Human Evolution

American Anthropologist, Volume 128, Issue 3, Page 494-510, September 2026.
ABSTRACT The evolutionary study of human dispersal is a key topic in biological anthropology. However, recent research has revealed inconsistencies between molecular and anatomical data across different timescales and geographic regions. Despite increased interdisciplinary dialogue, these discordances are rarely analyzed in depth or interpreted for ...
Lumila Paula Menéndez, Sophie Veigl
wiley   +1 more source

Camptomelic dysplasia: A case report [PDF]

Srpski Arhiv za Celokupno Lekarstvo, 2007
Campomelic/camptomelic dysplasia is a very rare, severe osteochondrodysplasia characterised by severe skeletal and nonskeletal malformations and lethal outcome mainly in neonatal period.
Koš Radmila, Međo Biljana, Grković Slobodanka, Nikolić Dimitrije, Sajić Silvija, Ilić Jelena   +5 more
doaj   +1 more source

Differentiating the Clinical and Variant Spectrum of Hardikar Syndrome From Other MED12 ‐Related Developmental Disorders

American Journal of Medical Genetics Part A, Volume 200, Issue 7, Page 1619-1650, July 2026.
ABSTRACT The rare X‐linked female‐restricted Hardikar syndrome (HDKR, OMIM # 301068) is characterized by multiple congenital anomalies including orofacial clefts, gastrointestinal, genitourinary, and cardiac anomalies, but cognitive and neurobehavioral development is rarely impaired.
Tinne Warmoeskerken, Miel Theunis, Kris Van den Bogaert, Koenraad Devriendt, Jeroen Breckpot   +4 more
wiley   +1 more source

Additional file 1: of A novel fibrillin-1 gene missense mutation associated with neonatal Marfan syndrome: a case report and review of the mutation spectrum

, 2017
Clinical features of the patient showing facial appearance, dolichocephaly, the pectus deformity, arachnodactyly, the thumb sign, and pes planus.
Yan Deng (159032), Hanmin Liu (111673), Yuan Yang (151457), Qian Peng (74762)   +3 more
core   +1 more source

Research into the correlation between positional skull deformation and motor performance of infants aged under 4 months

BMC Pediatrics, 2023
Objective To investigate the correlation between positional skull deformation (PD) and motor performance of infants under 4 months of age. Methods Infants aged under 4 months were enrolled in the children’s healthcare and the premature infants follow-up ...
Tianqi Huang, Wenzao Li, Chengju Wang, Fuxiang Qu, Qiuxia Yang, Qiuming Pan, Xiaoqin Pu, Can Xiao, Yi Cai, Meifeng Xia, Yuping Zhang   +10 more
doaj   +1 more source

Heart Transplant for Noncompaction Cardiomyopathy in NONO‐Related Syndromic Intellectual Disability

Molecular Genetics &Genomic Medicine, Volume 14, Issue 7, July 2026.
Silent NONO variant c.348G>A caused exon 4 skipping, frameshift, and nonsense‐mediated decay in a boy with neurodevelopmental delay and severe left ventricular noncompaction requiring heart transplantation in early childhood. Stable graft function at 14 years highlights favorable long‐term cardiac outcome; literature review confirms a recognizable ...
Julia S. Singer, Dorota Garczarczyk‐Asim, Miriam Michel, Thomas Müller, Lukas Hackl, Andreas R. Janecke   +5 more
wiley   +1 more source

Expanding the phenotypic spectrum of IFT81: Associated ciliopathy syndrome

, 2020
Short-rib polydactyly syndromes are a heterogeneous group of disorders characterized by narrow thorax with short ribs, polydactyly and often other visceral and skeletal malformations. To date there have only been six reported patients with homozygous and
Baptista, Julia, Ellard, Sian
core   +2 more sources

The Diagnostic Odyssey of a Biochemically Confirmed Case of ML II: The First Western Patient With LYSET Deficiency

Clinical Genetics, Volume 110, Issue 1, Page 125-130, July 2026.
We identify a female patient with a homozygous nonsense variant (p.Gln38Ter) in the LYSET gene. This is the first western report of a challenging case of an extensive diagnostic odyssey and demonstrates that the LYSET gene must be considered in the differential diagnosis when M6P‐labeled lysosomal enzymes are altered.
Fernanda Sperb‐Ludwig, Taciane Alegra, Leonardo Martinello da Rosa, Nataniel Floriano Ludwig, Renata Voltolini Velho, Ida Vanessa Doederlein Schwartz   +5 more
wiley   +1 more source