Hindlimb deformities (ectromelia, ectrodactyly) in free-living anurans from agricultural habitats
Case RepoRt Ectrodactyly with Fibular Aplasia and …theantiseptic.in/uploads/medicine/Ectrodactyly...
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25 THE ANTISEPTIC Vol. 114 • December 2017 CASE REPORT Prof. Dr. Sangeeta Triphathy, Professor Dept. of Radiodiagnosis, Dr. Jasmine Jaiswar, Senior, Resident pediatrics Dr. Tapas Bandyopadhyay, Assistant Professor, Department of Neonatology, Dr. Kalpana Bansal, Associate Professor, Department of Radiodiagnosis, Dr. Ruchi Rai, Professor, Dept. of Neonatology, Super Speciality Paediatric Hospital & Post Graduate Teaching Institute, Sector-30, Noida, Gautam Budh Nagar, U.P. – 201 310. Ectrodactyly with Fibular Aplasia and Inguinal Hernia- A Rare Entity SANGEETA TRIPHATHY, JASMINE JAISWAR, TAPAS BANDYOPADHYAY, KALPANA BANSAL, RUCHI RAI Specially Contributed to "The Antiseptic" Vol. 114 No. 12 & P : 25 - 26 Introduction Split hand foot malformation (SHFM) or ectrodactyly is a rare congenital malformation of limbs characterized by absence of central ray of hand or foot (OMIM 183600) 1 . It usually affects more than one limb and is classically characterised by a deep median cleft in the affected limb, resembling lobster claw, hence also known as “lobster claw deformity”. However, other variations like monodactyly, syndactyly, aplasia/hypoplasia of phalanges, metacarpals, and metatarsals may also coexist 2 . It may occur either as an isolated entity or as a part of a syndrome. Fibular aplasia with ectrodactly is a rare congenital malformation of limbs, inherited as an autosomal dominant trait. The association is apparently rare with less than 50 familial and sporadic cases have been reported in the literature 3 . The disorder is usually characterized by incomplete penetrance with SUMMARY Split hand foot malformation or ectrodactyly occurring in association with fibular aplasia is a rare congenital limb malformation with autosomal dominant inheritance and incomplete penetrance. We report a case of newborn who had ectrodactyly with fibular aplasia and inguinal hernia detected at birth. Our case is unique in the sense that inguinal hernia in association with ectrodactyly with fibular aplasia has not yet been reported in the literature. We hereby report a case of ectrodactyly with fibular aplasia and right sided inguinal hernia. Key words: ectrodactyly, fibular aplasia, inguinal hernia. variable expression. Males are more commonly affected than females as the penetrance is reported to be further reduced in females. We report a case of newborn, presenting with ectrodactyly of all four limbs along with fibular aplasia and right inguinal hernia. Case The baby boy was the first child of 22 years, healthy, primiparous, unrelated parents. The pregnancy was uneventful until spontaneous onset of labor at 41st week of gestation. However, the baby was born by caesarean section due to prolonged labour. Apgar score was 7 and 10 at 1 and 5 min, respectively. His birthweight was 2080 g (<3rd centile) and head circumference 33.5 cm (15th centile). After delivery the baby was noted to have short right thigh with acute angulation at mid thigh level as well as a dimple was noted at the site of angulation (Fig.1 A ). There was also acute angulation of both feet. He had oligodactyly of both feet (two digits) and marked widening of the space between the hallux and the adjacent toe. He also had oligodactyly (two digits on right hand and three digits on left hand) of both hands and marked widening of the space between the thumb and the adjacent fingers (ectrodactyly). There is also an inguinal hernia noted on the right side which was repaired on 5th day of life. Postoperative period was uneventful and the baby was discharged from the hospital on 7th day of life. Radiographs of the legs and foot revealed bilateral fibular aplasia, shortening and bowing of right femur (camptomelia), two metatarsal bones on both feet. There are two digits on both sides with three and two normal phalanges respectively. There is also right sided inguinal hernia containing air filled bowel loops (Fig. 1 A through C). Radiographs of the upper limbs showed two metacarpal bones as well as two phalanges in right hand. Left hand has three metacarpal bones with fused second and third metacarpal proximally. Left thumb had two distal phalanges (syndactyly) and the left third finger had two phalanges.Craniofacial and axial skeleton appeared normal. The patient’s karyotype (GTG- banding) was normal male, 46,XY. There was no family history of limb deficiencies or other congenital malformations.
Transcript of Case RepoRt Ectrodactyly with Fibular Aplasia and …theantiseptic.in/uploads/medicine/Ectrodactyly...
25 THE ANTISEPTIC Vol. 114 • December 2017
Case RepoRt
Prof. Dr. Sangeeta Triphathy, Professor Dept. of Radiodiagnosis, Dr. Jasmine Jaiswar, Senior, Resident pediatricsDr. Tapas Bandyopadhyay, Assistant Professor, Department of Neonatology, Dr. Kalpana Bansal, Associate Professor, Department of Radiodiagnosis, Dr. Ruchi Rai, Professor, Dept. of Neonatology,Super Speciality Paediatric Hospital & Post Graduate Teaching Institute, Sector-30, Noida, Gautam Budh Nagar, U.P. – 201 310.
Ectrodactyly with Fibular Aplasia and Inguinal Hernia- A Rare EntitySangeeta triphathy, JaSmine JaiSwar, tapaS Bandyopadhyay, Kalpana BanSal,
ruchi rai
Specially Contributed to "The Antiseptic" Vol. 114 No. 12 & P : 25 - 26
Introduction
Split hand foot malformation (SHFM) or ectrodactyly is a rare congenital malformation of limbs characterized by absence of central ray of hand or foot (OMIM 183600)1. It usually affects more than one limb and is classically characterised by a deep median cleft in the affected limb, resembling lobster claw, hence also known as “lobster claw deformity”. However, other variations like monodactyly, syndactyly, aplasia/hypoplasia of phalanges, metacarpals, and metatarsals may also coexist2. It may occur either as an isolated entity or as a part of a syndrome.
Fibular aplasia with ectrodactly is a rare congenital malformation of limbs, inherited as an autosomal dominant trait. The association is apparently rare with less than 50 familial and sporadic cases have been reported in the literature3. The disorder is usually characterized by incomplete penetrance with
summaRy
Split hand foot malformation or ectrodactyly occurring in association with fibular aplasia is a rare congenital limb malformation with autosomal dominant inheritance and incomplete penetrance. We report a case of newborn who had ectrodactyly with fibular aplasia and inguinal hernia detected at birth. Our case is unique in the sense that inguinal hernia in association with ectrodactyly with fibular aplasia has not yet been reported in the literature. We hereby report a case of ectrodactyly with fibular aplasia and right sided inguinal hernia. Key words: ectrodactyly, fibular aplasia, inguinal hernia.
variable expression. Males are more commonly affected than females as the penetrance is reported to be further reduced in females.
We report a case of newborn, presenting with ectrodactyly of all four limbs along with fibular aplasia and right inguinal hernia.Case
The baby boy was the first child of 22 years, healthy, primiparous, unrelated parents. The pregnancy was uneventful until spontaneous onset of labor at 41st week of gestation. However, the baby was born by caesarean section due to prolonged labour. Apgar score was 7 and 10 at 1 and 5 min, respectively. His birthweight was 2080 g (<3rd centile) and head circumference 33.5 cm (15th centile).
After delivery the baby was noted to have short right thigh with acute angulation at mid thigh level as well as a dimple was noted at the site of angulation (Fig.1 A ). There was also acute angulation of both feet. He had oligodactyly of both feet (two digits) and marked widening of the space between the hallux and the adjacent toe. He also had oligodactyly (two digits on right hand and three digits on left
hand) of both hands and marked widening of the space between the thumb and the adjacent fingers (ectrodactyly). There is also an inguinal hernia noted on the right side which was repaired on 5th day of life. Postoperative period was uneventful and the baby was discharged from the hospital on 7th day of life.
Radiographs of the legs and foot revealed bilateral fibular aplasia, shortening and bowing of right femur (camptomelia), two metatarsal bones on both feet. There are two digits on both sides with three and two normal phalanges respectively. There is also right sided inguinal hernia containing air filled bowel loops (Fig. 1 A through C). Radiographs of the upper limbs showed two metacarpal bones as well as two phalanges in right hand. Left hand has three metacarpal bones with fused second and third metacarpal proximally. Left thumb had two distal phalanges (syndactyly) and the left third finger had two phalanges.Craniofacial and axial skeleton appeared normal. The patient’s karyotype (GTG-banding) was normal male, 46,XY.
There was no family history of limb deficiencies or other congenital malformations.
