Results 21 to 30 of about 251 (197)

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

Insights into the pathogenesis and treatment of split/hand foot malformation (cleft hand/foot) [PDF]

Journal of Hand Surgery (European Volume), 2018
Cleft hand or split hand foot malformation is a sequence of phenotypes, from a minor shortening of the central digit to a complete absence of the third ray and in the most severe cases, absence of two, three or four rays. It is a rare but spectacular presentation usually involving both hands and feet.
Stéphane, Guero, Muriel, Holder-Espinasse   +1 more
openaire   +2 more sources

Femoral Hypoplasia with Unusual Facies Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2017
Femoral facial syndrome is a rare clinical entity characterized by unilateral or bilateral femoral hypoplasia along with various malformations of face. Only few cases have been detected by antenatal ultrasonography so far.
Sreekanth R Shenoy, Dipankar Mondal, Manas Ranjan Upadhyay, Bhupendra Kumar Gupta, Jatadhari Mahar   +4 more
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

A Rare Case of Ectrodactyly Ectodermal Dysplasia and Cleft Lip Syndrome [PDF]

Journal of Clinical and Diagnostic Research, 2022
A 23-year-old female patient visited the Oral Medicine and Radiology Department with the complaint of irregularly placed upper and lower front teeth since childhood.
Kshma Rao, Roopashri R Kashyap, Raghavendra Kini, Prasanna Kumar Rao, Gowri P Bhandarkar, Devika Shetty   +5 more
doaj   +1 more source

Ectrodactyly: A rare anomaly of limbs

Journal of Dr. NTR University of Health Sciences, 2015
Ectrodactyly refers to the congenital limb malformation, characterized by a deep median cleft of the hand and/or foot due to the absence of central rays.
Nirmala SVSG, Sandeep Chilamakuri, Chaitanya Pavuluri, Sivakumar Nuvvula, Sindhuri Veluru   +4 more
doaj   +1 more source

Associated syndromes and other genetic variations at a South African cleft lip and palate clinic

Curationis, 2009
A retrospective study was done of data on all patients registered at one of the largest cleft lip and palate clinics in South Africa (n = 3174). The associated syndromes and other genetic variations [(abbreviation:) ASGV] found in the population of ...
H.J.S. van den Berg, S.M. du Plessis, K-W. Butow, E.M. Honey   +3 more
doaj   +1 more source

A Novel Homozygous Nonsense Mutation p.Cys366* in the WNT10B Gene Underlying Split-Hand/Split Foot Malformation in a Consanguineous Pakistani Family

Frontiers in Pediatrics, 2020
Split hand/split foot malformation (SHFM) or ectrodactyly is characterized by a deep median cleft of the hand or foot, hypoplasia or aplasia of the metacarpals, metatarsals, and phalanges.
Amjad Khan, Amjad Khan, Amjad Khan, Rongrong Wang, Shirui Han, Muhammad Umair, Mohammad A. Alshabeeb, Muhammad Ansar, Wasim Ahmad, Manal Alaamery, Xue Zhang, Xue Zhang   +11 more
doaj   +1 more source

Rapid confirmation of trisomy 13 of maternal origin by QF-PCR following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial polydactyly and facial cleft

Taiwanese Journal of Obstetrics & Gynecology, 2022
Objective: We present rapid confirmation of trisomy 13 of maternal origin by quantitative fluorescent polymerase chain reaction (QF-PCR) following postmortem tissue cell culture failure in a pregnancy with trisomy 13 at amniocentesis and fetal postaxial ...
Chih-Ping Chen, Shin-Wen Chen, Jain-Pei Huang, Schu-Rern Chern, Fang-Tzu Wu, Yen-Ting Pan, Chen-Chi Lee, Wayseen Wang   +7 more
doaj   +1 more source

Lobster claw deformity

Indian Journal of Dental Research, 2014
Endogenous erythroid colony (EEC) syndrome comprise of three cardinal features, i.e. ectrodactyly, ectodermal dysplasia and cleft lip. EEC itself has three different forms.
Ashish Agrawal, Rahul Agrawal, Rajat Singh, Romi Agrawal, Seema Agrawal   +4 more
doaj   +1 more source