A cohort of 17 patients with kyphoscoliotic Ehlers-Danlos syndrome caused by biallelic mutations in FKBP14: expansion of the clinical and mutational spectrum and description of the natural history. [PDF]
, 2017 PurposeIn 2012 we reported in six individuals a clinical condition almost indistinguishable from PLOD1-kyphoscoliotic Ehlers-Danlos syndrome (PLOD1-kEDS), caused by biallelic mutations in FKBP14, and characterized by progressive kyphoscoliosis, myopathy,
A Karaa +59 more
core +3 more sources
Macrocerebellum: Significance and Pathogenic Considerations [PDF]
, 2018 Macrocerebellum is a rare finding characterized by an abnormally large cerebellum. Only few patients with a syndromal or isolated macrocerebellum have been reported so far.
Benson, Jane +15 more
core
Skin Lesions in Swine with Decompression Sickness: Clinical Appearance and Pathogenesis
Frontiers in Physiology, 2017 Skin lesions are visual clinical manifestations of decompression sickness (DCS). Comprehensive knowledge of skin lesions would give simple but strong clinical evidence to help diagnose DCS.
Long Qing +6 more
doaj +1 more source
Ossification in Normal and Pathological Contexts: The Key Role of Static Osteogenesis vs. Dynamic Osteogenesis in the Etiopathology of Some Skeletal Alterations [PDF]
This Commentary is intended to start a discussion in the field of calcification/ossification related to osteogenesis. It highlights that two types of bone formation, static osteogenesis (SO) and dynamic osteogenesis (DO), are temporally followed by each ...
Ferretti, Marzia +2 more
core +1 more source
Adams-Oliver syndrome: a case with full expression
Pediatric Reports, 2016 Adams-Oliver syndrome (AOS) is characterized by the combination of congenital scalp defects (aplasia cutis congenita) and terminal transverse limb defects of variable severity.
Amir Dehdashtian, Masoud Dehdashtian
doaj +1 more source
Case Report: A novel DLL4 variant in a neonate with Adams-Oliver syndrome
Frontiers in PediatricsAdams-Oliver syndrome is a rare congenital disorder with six subtypes that have been identified. Subtypes 1, 3, 5, and 6 have an autosomal dominant inheritance pattern, whereas subtypes 2 and 4 have an autosomal recessive inheritance pattern.
Yanping Huang +4 more
doaj +1 more source
Cutis marmorata telangiectásico congénito. A propósito de un caso [PDF]
, 2023 Antonio David Pérez-Elizondo +1 more
openalex +1 more source
Ischemic Proliferative Retinopathy in a Korean Patient with Cutis Marmorata Telangiectatica Congenita: A Case Report. [PDF]
Korean J Ophthalmol, 2022 Kim MJ, Kim SJ.
europepmc +1 more source
Cutis marmorata telangiectatica congenita: an unusual cause of lower extremity hypoplasia
The Turkish Journal of Pediatrics, 2001 Cutis marmorata telangiectatica congenita is a relatively benign, rare cutaneous disorder with various manifestations. A seven-year-old girl, who presented with extremity hypoplasia, had the characteristic reticular, patchy, blue-pink cutaneous ...
S Avci, E Calikoğlu, U Sayli
doaj
Cutis Marmorata Telangiectatica Congenita: A Rare Clinical Manifestation of Capillary Hemangioma? [PDF]
, 2003 Bang Jin Lee, You Chan Kim, Eun‐So Lee
openalex +1 more source