Results 101 to 110 of about 573,924 (254)

Identification of Novel Mutation in the ABCA12 Gene Causing Harlequin Ichthyosis

Clinical Case Reports, Volume 14, Issue 2, February 2026.
ABSTRACT Harlequin ichthyosis (HI) is an uncommon and extremely severe hereditary condition that primarily affects the skin. Infants born with this disorder display dense skin and prominent diamond‐shaped plates that cover a significant portion of their bodies.
Nadia Soltani, Zahra Bayati, Mohsen Soosanabadi, Akbar Zamani, Asghar Lotfi, Milad Gholami   +5 more
wiley   +1 more source

Clinical and Genetic Significance of Chromosomal Microarray Screening of Asymptomatic Newborns

Journal of Clinical Laboratory Analysis, Volume 40, Issue 3, February 2026.
Among 99 asymptomatic newborns with abnormal low‐resolution chromosomal microarray (LR‐CMA) screening, 70.7% harbored microduplication/microdeletions with syndromic implications. However, only a minority exhibited developmental concerns during early follow‐up, highlighting the need for cautious interpretation.
Naye Choi, Hwa Young Kim, Jung Min Ko
wiley   +1 more source

Collodion Baby with TGM1 gene mutation

International Medical Case Reports Journal, 2015
Deepak Sharma,1 Basudev Gupta,2 Sweta Shastri,3 Aakash Pandita,1 Smita Pawar4 1Department of Neonatology, Fernandez Hospital, Hyderguda, Hyderabad, Andhra Pradesh, 2Department of Pediatrics, Civil Hospital, Palwal, Haryana, 3Department of Pathology, NKP ...
Sharma D, Gupta B, Shastri S, Pandita A, Pawar S   +4 more
doaj  

Comprehensive Molecular Analysis of Disease-Related Genes as First-Tier Test for Early Diagnosis, Classification, and Management of Patients Affected by Nonsyndromic Ichthyosis

Biomedicines
Inherited ichthyoses are a group of clinically and genetically heterogeneous rare disorders of skin keratinization with overlapping phenotypes. The clinical picture and family history are crucial to formulating the diagnostic hypothesis, but only the ...
Tiziana Fioretti, Fabrizio Martora, Ilaria De Maggio, Adelaide Ambrosio, Carmelo Piscopo, Sabrina Vallone, Felice Amato, Diego Passaro, Fabio Acquaviva, Francesca Gaudiello, Daniela Di Girolamo, Valeria Maiolo, Federica Zarrilli, Speranza Esposito, Giuseppina Vitiello, Luigi Auricchio, Elena Sammarco, Daniele De Brasi, Roberta Petillo, Antonella Gambale, Fabio Cattaneo, Rosario Ammendola, Paola Nappa, Gabriella Esposito   +23 more
doaj   +1 more source

Occipital Extracranial Dermoid Cyst in a Neonate With Cardiofaciocutaneous Syndrome Type 4 (CFC4): A Case Report

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Dermoid cysts are congenital inclusion lesions that arise from ectodermal entrapment along embryonic fusion lines; occipital extracranial involvement is particularly uncommon. Cardiofaciocutaneous syndrome type 4 (CFC4), a RASopathy caused by pathogenic variants in MAP2K2, presents with characteristic dermatologic, craniofacial, and ...
Mona Alkallabi, Khalid Nabil Nagshabandi, Naif Ahmed Alshehri, Hala Abdullah Almusa, Almunthir Saud Alhamed   +4 more
wiley   +1 more source

Congenital malformations at a referral hospital in Gorgan, Islamic Republic of Iran [PDF]

, 2005
This study recorded the rate of congenital malformations in 10 000 births at a referral hospital in Gorgan, Islamic Republic of Iran in 1998-99. The overall incidence of congenital malformations was 1.01% (1.19% in males and 0.76% in females).
Ahmadpour-Kacho, M., Golalipour, M.J., Vakili, M.A.   +2 more
core  

Interventions for congenital ichthyosis

Cochrane Database of Systematic Reviews, 2014
Reason for withdrawal from publication The authors have relinquished responsibility for this protocol. It was published several years ago, and Cochrane Skin have decided to withdraw it (Managing Editor, Cochrane Skin).
Danielsen, Patricia L, Thirthar Palanivelu, Vetrichevvel, Mukhtar, Aqif S., Duke, Janine M., Mocellin, Simone   +4 more
openaire   +3 more sources

Multilocus Genetic Variants in a Child With Neuro‐Ichthyosis: A Case of Pharmacoresistant Epilepsy and Developmental Delay Associated With CC2D2A, ABCA12, DOCK6 Variants, and a 14q31.3–q32.11 Deletion

Clinical Case Reports, Volume 14, Issue 1, January 2026.
ABSTRACT Neuro‐ichthyosis is a rare group of disorders characterized by the coexistence of neurological dysfunction and ichthyotic skin changes. We report a 5‐year‐old girl born to consanguineous parents who presented with pharmacoresistant epilepsy, severe developmental delay, microcephaly, and ichthyosis.
Bessan Hamed Dababseh, Ala'a S. Ghnimat, Lubna W. AbuHamdiya, Mones H. Atatre, Ahmad Batran, Mahdi W. Suboh   +5 more
wiley   +1 more source

Соціальна адаптація хворих на іхтіоз: гендерні, вікові та спадкові особливості [PDF]

, 2015
Представлено результати вивчення особливостей соціальної адаптації хворих на іхтіоз Подільського регіону відносно гендерних, вікових та спадкових особливостей.
Дмитренко, С.В.
core  

Multiple sulfatase deficiency with neonatal manifestation. [PDF]

, 2014
Multiple Sulfatase Deficiency (MSD; OMIM 272200) is a rare autosomal recessive inborn error of metabolism caused by mutations in the sulfatase modifying factor 1 gene, encoding the formylglycine-generating enzyme (FGE), and resulting in tissue ...
Ballabio, A., Bernasconi, S., Braibanti, S., Frattini, D., Gabrielli, O., Galeazzi, T., Garavelli, L., Gargano, G., Gelmini, C., Iori, A., Iughetti, L., Ivanovski, I., Melli, N., Padella, L., Pedori, S., Pepe, S., Rosato, S., Santoro, L., Superti-Furga, A., Wischmeijer, A., Zampini, L.   +20 more
core   +1 more source