Results 31 to 40 of about 2,276 (204)

A case of ectrodactyly in a neonate

Journal of Clinical Neonatology, 2013
Ectrodactyly also known as Split hand/foot malformation is a rare limb malformation with autosomal dominant in heritance with variable penetrance, commonly known as "lobster claw hand". Usually it involves midline clefts of the hands and feet with syndactyly. We report a neonate with ectrodactyly and brief review of literature of condition.
Kalathia, Mitul B., Seta, Avani A., Parmar, Parin N.   +2 more
openaire   +3 more sources

Gollop-Wolfgang Complex: Clinical and Imaging Implications

Indian Journal of Radiology and Imaging, 2021
Gollop-Wolfgang complex is defined as the presence of a distal bifid femur and tibial hemimelia with or without hand ectrodactyly. The condition commonly presents with several skeletal abnormalities and internal organ congenital defects. We hereby report
Robert Hunter Vanderberg, Thomas Block, Thomas Gates, Juan Gomez   +3 more
doaj   +1 more source

A novel MBTPS2 missense variant identifying keratosis follicularis spinulosa decalvans in a case of neonatal erythroderma. [PDF]

J Dtsch Dermatol Ges
JDDG: Journal der Deutschen Dermatologischen Gesellschaft, Volume 24, Issue 3, Page 392-396, March 2026.
Cuperus E, van Geel M, Verhoeven VJ, Koudijs SM, Boerman GH, Tjiam AM, van der Lugt NM, Pasmans SG.   +7 more
europepmc   +2 more sources

Molecular Landscape in Limb Anomalies: Diagnostic Yield and New Candidate Genes. [PDF]

Clin Genet
In 132 individuals with limb anomalies, diagnostic yield was 36% (47/132), including 25 novel variants, three cases with new phenotypes, and two candidate loci, HOXA11 and a small 2q31.1 deletion. Mouse data and exome‐wide analysis, key in identifying the candidate loci, represent an important opportunity for gene discovery.
Mokhtari A, Charbonneau J, Miranda V, Jizi K, Delrue MA, Egerszegi P, Thiffault I, Campeau PM.   +7 more
europepmc   +2 more sources

Gollop-Wolfgang Complex in a New Born with Morton's Toe and Congenital Heart Disease [PDF]

Journal of Krishna Institute of Medical Sciences University, 2021
Gollop-Wolfgang complex is a rare anomaly comprising of bifid femur, tibial aplasia or hypoplasia and cleft of hands with variations and other systems involvement.
Gurudutt Joshi
doaj  

Split-hand/split-foot malformation (SHFM)

Asian Journal of Medical Sciences, 2014
Split-hand/split-foot malformation (SHFM), also known as ectrodactyly or lobster claw hand is a congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of the central rays of the autopod. It may occur
Monojit Mondal
doaj   +1 more source

Autosomal recessive split-hand/split-foot malformation

Journal of Mahatma Gandhi Institute of Medical Sciences, 2016
Split-hand/split-foot malformation (SHFM), a congenital limb malformation, occurs due to the absence of the central rays of autopod that results in a deep median cleft of the hand and/or foot.
Monojit Mondal, Biswajit Biswas, Kaustav Nayek, Asok Kumar Datta   +3 more
doaj   +1 more source

Ectrodactyly: A rare anomaly of limbs

, 2011
Split-hand/split-foot malformation (SHFM) is a rare congenital malformation of the limbs with median clefts of the hands and feet and aplasia/hypoplasia of the phalanges, metacarpals and metatarsals.
BM Shrestha, K Keyal, R Pandey, BG Joshi
core   +1 more source

Ectrodactyly - ectodermal dysplasia - clefting syndrome: a case report

, 2013
INTRODUCTION: The principal features of the Ectrodactyly-ectodermal dysplasia-clefting (EEC) syndrome are ectrodactyly, ectodermal dysplasia and facial clefting.
Du, Y, Yiu, CKY, Du, RY, Yiu, C, Chau, Y, Nair, R   +5 more
core   +1 more source

Klippel‐Trénaunay‐Weber Syndrome: Prenatal Diagnosis and Review of the Literature

Journal of Clinical Ultrasound, Volume 53, Issue 3, Page 535-546, March/April 2025.
This meta‐analysis demonstrates the high diagnostic accuracy of SZ‐CEUS for differentiating between malignant and benign focal liver lesions, as well as for HCC from non‐HCC lesions. The study shows better performance for smaller lesions and those with a higher proportion of malignancy.
Giuliana Orlandi, Laura Sarno, Antonio Angelino, Mariarosaria Motta, Raffaella Di Girolamo, Luigi Carbone, Marika Rovetto, Laura Letizia Mazzarelli, Gabriella Sglavo, Francesco D' Antonio, Ilenia Mappa, Daniele Di Mascio, Giuseppe Rizzo, Giuseppe Maria Maruotti   +13 more
wiley   +1 more source