Results 51 to 60 of about 2,629 (212)

Outpatient management of large scalp aplasia cutis congenita without skull defect in a case of Adams-Oliver syndrome. [PDF]

Kaohsiung J Med Sci
The Kaohsiung Journal of Medical Sciences, Volume 41, Issue 2, February 2025.
Tsai YT, Yang YC.
europepmc   +2 more sources

Haploinsufficiency of the NOTCH1 Receptor as a Cause of Adams-Oliver Syndrome With Variable Cardiac Anomalies. [PDF]

, 2015
BACKGROUND: Adams-Oliver syndrome (AOS) is a rare disorder characterized by congenital limb defects and scalp cutis aplasia. In a proportion of cases, notable cardiac involvement is also apparent.
Brancati, F, Coerdt, W, Collinson, CS, Dallapiccola, B, Digilio, MC, Graul-Neumann, LM, Jacquemin, E, Joss, S, Karountzos, ASV, Machado, RD, Ruddy, D, Salviati, L, Snape, KM, Southgate, L, Sukalo, M, Taylor, EJ, Tolmie, JL, Trembath, RC, Wuyts, W, Zenker, M   +19 more
core   +3 more sources

Cutis Marmorata Telangiectatica Congenita in a Preterm Female Newborn: Case Report and Review of the Literature

La Pediatria Medica e Chirurgica, 2014
Cutis Marmorata Telangiectatica Congenita (CMTC) is a rare, sporadic condition usually present at birth characterized by localized or generalized persistent cutis marmorata, telangiectasia and phlebectasia.
C. De Maio, G. Pomero, A. Delogu, E. Briatore, M. Bertero, P. Gancia   +5 more
doaj   +1 more source

DOCK6 Mutations Are Responsible for a Distinct Autosomal-Recessive Variant of Adams-Oliver Syndrome Associated with Brain and Eye Anomalies [PDF]

, 2015
Author contacted for ...
De Smedt, M, Kayserili, H, Kayserili, H, Mundlos, S, Müller, D, Ruddy, DM, Skalej, M, Snape, KM, Southgate, L, Southgate, L, Sukalo, M, Tilsen, F, Trembath, R, Trembath, R, Tüysüz, B, van der Aa, N, Wakeling, E, Wuyts, W, Wuyts, W, Zenker, M, Ørstavik, KH   +20 more
core   +2 more sources

A case report of cornelia de lange syndrome in Northern Iran; a clinical and diagnostic study [PDF]

, 2016
As a rare multisystem congenital anomaly disorder, Cornelia de Lange syndrome (CdLS) is featured by delayed growth and development, distinct facial dimorphism, limb malformations and multiple organ defects.
Alaee, E., Bazrafshan, B., Hosseininejad, S.-M.   +2 more
core   +1 more source

A developmental and genetic classification for malformations of cortical development: update 2012. [PDF]

, 2012
Malformations of cerebral cortical development include a wide range of developmental disorders that are common causes of neurodevelopmental delay and epilepsy. In addition, study of these disorders contributes greatly to the understanding of normal brain
Barkovich, A James, Dobyns, William B, Guerrini, Renzo, Jackson, Graeme D, Kuzniecky, Ruben I   +4 more
core   +3 more sources

PTPN11 mutations are not responsible for the Cardiofaciocutaneous (CFC) syndrome [PDF]

, 2003
Cardiofaciocutaneous (CFC) syndrome is a multiple congenital anomalies/mental retardation syndrome characterized by congenital heart defects, characteristic facial appearance, short stature, ectodermal abnormalities and mental retardation.
AE Fryer, B Chen, CR Jamieson, D Brunoni, E Legius, E Schollen, G Neri, G Neri, G Neri, J M Opitz, JF Reynolds, JP Fryns, LG Leichtman, M G Pomponi, M I Kavamura, M M A Alchorne, M Murdolo, M Tartaglia, M Tartaglia, M Zollino, MC Digilio, ME Lorenzetti, MI Kavamura, P Hof, R Lecce, T Ogata, TA Grebe   +26 more
core   +2 more sources

Cutis marmorata telangiectatica congenita with limb defects, cleft palate, and ambiguous genitalia

Indian Journal of Paediatric Dermatology, 2020
Cutis marmorata telangiectatica congenita (CMTC) is an uncommon, congenital, vascular malformation first described by van Lohuizen in 1922. CMTC is an infrequently reported congenital cutaneous disorder and is usually present at birth but can appear up ...
Manish Jain, Safa Patrick, Sumit Kar, Prachi Gawande   +3 more
doaj   +1 more source

Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly [PDF]

, 2017
Mutations of genes within the phosphatidylinositol-3-kinase (PI3K)-AKT-MTOR pathway are well known causes of brain overgrowth (megalencephaly) as well as segmental cortical dysplasia (such as hemimegalencephaly, focal cortical dysplasia and ...
Aaron M Wenger, Adeline Jacquinet, Anand Saggar, Andrew E Timms, Anna Lehman, Arya, Baek, Barkovich, Carpten, Chi Cheng, Chiara Pantaleoni, Cho, Chung, Conti, Crino, Diana Alcantara, Enrico Alfei, Fiona Stewart, Garg, Ghayda M Mirzaa, Gill Bejerano, Harada, Harendra Guturu, Hemming, Hussain, Jamuar, Jansen, John M Graham Jr., Jonathan A Bernstein, Karen Gripp, Kaylee Park, Keppler-Noreuil, Laura Baker, Lee, Lindhurst, László Sztriha, Margot I Van Allen, Mark O’Driscoll, Melinda Zombor, Mirzaa, Mirzaa, Mirzaa, Mirzaa, Mirzaa, Nakamura, Natalia Gomez-Ospina, Negishi, Nellist, Oana Caluseriu, Parikh, Park, Poduri, Renzo Guerrini, Riviere, Robert Hevner, Ronit Mesterman, Sarah Collins, Sarju G Mehta, Slavotinek, Sofia Ygberg, Takagi, Tokuda, Ute Moog, Valerio Conti, Wang, Wieck, William B Dobyns, Wilson, Yang   +68 more
core   +3 more sources

Investigating the frequency of skin manifestation in newborns admitted to a Children\u27s Hospital in the North of Iran [PDF]

, 2023
Skin manifestations, a common problem in infants, can be a serious concern for parents. Most manifestations are benign and transient, but some of them need more evaluation regarding whether they can negatively affect infant health.
Eftekhari, Hojat, Mahdipour, Sadroddin, Masoudi, Haleh, Poorsaravani, Faranak, Shabani, Anahita, Shafaei, Sareh   +5 more
core   +1 more source