Results 71 to 80 of about 2,276 (204)
Prenatal Diagnosis of Ectrodactyly in the First Trimester by Three-Dimensional Ultrasonography
American Journal of Perinatology Reports, 2016 Introduction Ectrodactyly, also known as split hand/foot malformation, is a rare developmental abnormality of the limbs that consists of absent central digits, a deep median cleft, and fusion of the remaining lateral digits, ultimately producing clawlike
Matthew J. Blitz, Burton Rochelson
doaj +1 more source
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
, 1992 A boy presented with ectrodactyly (lobster claw deformity), bilateral cleft lip and palate, semilobar holoprosencephaly and microcephaly, associated with congenital hypogonadotropic hypogonadism and central diabetes insipidus.
L Van Maldergem +11 more
core +1 more source
Case Reports in Dentistry, Volume 2025, Issue 1, 2025.Background Oral–Facial–Digital Syndrome Type 1 (OFD1) is a genetic disorder marked by diverse malformations of the oral cavity, face, and digits. Case This case report presents a female patient who was first referred to the Department of Pedodontics at Istanbul University at 18 months of age due to the absence of teeth in the upper molar region and who
Selin Saygili +2 more
wiley +1 more source
Pediatric Dermatology, Volume 41, Issue 6, Page 1106-1113, November/December 2024.ABSTRACT Background Focal dermal hypoplasia (FDH), also known as Goltz syndrome, is a rare ectodermal dysplasia that primarily affects the skin, skeleton, and eyes. It is an X‐linked dominant disorder, predominantly seen in females, caused by pathogenic variants in PORCN. Methods We characterized a case series of four genetically confirmed FDH patients
Laura Krogh Herlin +6 more
wiley +1 more source
Goltz syndrome: A newborn with ectrodactyly and skin lesions
Indian Journal of Dermatology, 2015 Goltz syndrome or Focal Dermal Hypoplasia is a rare multisystem disorder, involving all the three germ cell layers. The disease is thought to be inherited in X-linked dominant fashion with heterogeneous mutations of the PORCN gene at Xp11.23 locus ...
Shatanik Sarkar +3 more
doaj +1 more source
A rare case of trisomy 18 with split-hand/split-foot malformation (SHFM)
Journal of Biomedicine and Translational Research, 2018 Background: Trisomy 18 is one of the most prevalent chromosomal aberrations in newborns, with characteristic features of internal organs such as heart and kidney abnormalities, as well as craniofacial and musculoskeletal anomalies. We present a rare case
Nydia Rena Benita Sihombing +2 more
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Frontiers in GeneticsSHFM (Split Hand/Foot Malformation) is a heterogeneous group of disorders characterized by the presence of clefts in the hands and feet, along with syndactyly of the digits.
Daria Akimova +3 more
doaj +1 more source
Ectrodactilia em cão: relato de caso Ectrodactyly in dog: case report
Arquivo Brasileiro de Medicina Veterinária e Zootecnia, 2007 Descreve-se um caso de ectrodactilia em um cão, sem raça definida e dois meses de idade. No exame clínico e radiográfico, foi verificada a separação óssea e de tecidos moles entre o segundo e o terceiro dígitos, estendendo-se proximalmente até a região ...
M.P. Ferreira +5 more
doaj +1 more source
A calf with ectrodactyly and micromelia: A case report
, 1997 Bu vaka takdiminde melez bir erkek buzağıda görülen ectrodactyly ile birlikte şekillenmiş micromelia tanımlandı. Ruminantlardaki kongenital anomaliler kalıtsal, çevresel, yada her iki faktörün müşterek etkilerinin bir sonucu olarak ortaya çıkar ...
Tuzcu, Mehmet +3 more
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