Results 71 to 80 of about 2,629 (212)
Macrocerebellum, epilepsy, intellectual disability, and gut malrotation in a child with a 16q24.1–q24.2 contiguous gene deletion [PDF]
, 2014 Peer Reviewedhttp://deepblue.lib.umich.edu/bitstream/2027.42/108054/1/ajmga36569 ...
Bodensteiner +33 more
core +1 more source
Born in the Purple: An Exceptional Case of Cutis Marmorata Telangiectatica Congenita [PDF]
, 2020 A full-term, 2-day-old female neonate with a congenital non-tender reticular patch that did not disappear with local warming was referred to our department for consultation.
Efthymia Gialeli +3 more
core +3 more sources
Adams-Oliver syndrome: Case report [PDF]
Srpski Arhiv za Celokupno Lekarstvo, 2011 Introduction. Adams-Oliver syndrome is characterized by congenital aplasia of the vertex skin of the skull in combination with skull and transverse limb defects. Case Outline.
Kuburović Vladimir +6 more
doaj +1 more source
Indian Journal of Paediatric Dermatology, 2022 Introduction: The rapidly adapting neonatal skin, being anatomically and physiologically distinct from an adult, may exhibit a variety of entities, ranging from mild self-limiting to the severe life-threatening ones.
Paras Choudhary +3 more
doaj +1 more source
Growth hormone deficiency in megalencephaly-capillary malformation syndrome: An association with activating mutations in PIK3CA [PDF]
, 2020 Megalencephaly-capillary malformation syndrome (MCAP) is a brain overgrowth disorder characterized by cortical malformations (specifically polymicrogyria), vascular anomalies, and segmental overgrowth secondary to somatic activating mutations in the PI3K-
Davis, Shanlee +15 more
core +2 more sources
Prenatal Diagnosis, Volume 45, Issue 1, Page 3-14, January 2025.ABSTRACT Objective To evaluate phenotype and genotype characteristics of fetuses and children with upper limb anomalies. Method Retrospective cohort study of a prenatal and postnatal cohort with upper limb anomalies from January 2007 to December 2021 in a Fetal Medicine Unit.
Arda Arduç +7 more
wiley +1 more source
The living will - pitfalls, benefits and a way forward [PDF]
, 2007 published_or_final_versio
Hui, EC
core
Congenital generalized hypertrichosis: The skin as a clue to complex malformation syndromes [PDF]
, 2015 Hypertrichosis is defined as an excessive growth in body hair beyond the normal variation compared with individuals of the same age, race and sex and affecting areas not predominantly androgen-dependent. The term hirsutism is usually referred to patients,
CORSELLO, Giovanni +6 more
core +2 more sources
Patchy Dermal Melanocytosis: Differential Diagnosis and Management
Journal of Cosmetic Dermatology, Volume 24, Issue 1, January 2025.ABSTRACT Background Nevus of Ito and Mongolian spots are distinct clinical presentations of patchy dermal melanocytosis, characterized by similar dermatological manifestations that can pose diagnostic difficulties for clinicians. Aim This review aims to consolidate current understanding and research advancements on these conditions to facilitate ...
Jiafang Zhu +4 more
wiley +1 more source
Anais Brasileiros de Dermatologia, 2013 Neonatal lupus is a rare disease caused by the transplacental transfer of maternal autoantibodies to the foetus, characterized by transient clinical manifestations such as cutaneous, haematological, and hepatobiliary events or permanent such as ...
Flávia Trevisan +3 more
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