|Year : 2017 | Volume
| Issue : 2 | Page : 201-203
Congenital ectrodactyly in a macrosomic Nigerian neonate: A case report and review of literature
Kelechi Kenneth Odinaka1, Ikechukwu Frank Ogbonna2, Cletus Akahara1
1 Department of Paediatrics, Federal Medical Centre, Owerri, Imo State, Nigeria
2 Department of Paediatrics, Federal Medical Centre, Umuahia, Abia State, Nigeria
|Date of Web Publication||14-Nov-2017|
Kelechi Kenneth Odinaka
Department of Paediatrics, Federal Medical Centre, Owerri, Imo State
Ectrodactyly is a Greek word that literally means abortion of a finger. It is a rare congenital disorder which makes the hands appear like the claws of a lobster. The most common mode of inheritance is autosomal dominant with reduced penetrance although autosomal recessive and X-linked forms of transmission can also occur. Herein, we report a rare case of ectrodactyly in a macrosomic Nigerian male as well as highlight challenges in the management of this genetic condition in a resource-constrained setting.
Keywords: Crab-claw deformity, ectrodactyly, macrosomia
|How to cite this article:|
Odinaka KK, Ogbonna IF, Akahara C. Congenital ectrodactyly in a macrosomic Nigerian neonate: A case report and review of literature. Trop J Med Res 2017;20:201-3
|How to cite this URL:|
Odinaka KK, Ogbonna IF, Akahara C. Congenital ectrodactyly in a macrosomic Nigerian neonate: A case report and review of literature. Trop J Med Res [serial online] 2017 [cited 2018 Dec 15];20:201-3. Available from: http://www.tjmrjournal.org/text.asp?2017/20/2/201/218216
| Introduction|| |
Ectrodactyly is a rare congenital disorder which affects the development of the hand and foot, leading to the absence of all or part of one or more fingers or toes. This makes the hands appear like the claws of a lobster. The word ectrodactyly was derived from two Greek words - ektroma which means abortion and daktylos which means finger. Literally, ectrodactyly means “absent digits.” In scientific literature, ectrodactyly is also called other names and they include: split-hand/foot malformation (SHFM), crab-claw deformity, and lobster claw.
The worldwide incidence of ectrodactyly has been documented to be 1 in 90,000 live births, with no gender predilection. The disorder arises as a result interplay of genetic defects as well as environmental factors causing failure to maintain the normal functioning of a specialized cell cluster known as apical ectodermal ridge, this leads to failure of differentiation of the central rays of the autopod (hand and leg). The most common mode of inheritance is autosomal dominant with reduced penetrance. Autosomal recessive and X-linked forms of transmission can also occur rarely while other cases of ectrodactyly are caused by chromosomal deletion and duplication. Five different genetic mutations are known to be associated with SHFM. The most frequent variety is type 1, and it is due to a mutation on chromosome 7 in a region that contains two homeobox genes, DLX5 and DLX6.
Detailed studies of a number of mouse models have shown that cadmium, hydroxyurea, cytarabine, methotrexate, ethanol, caffeine, cocaine, valproic acid, acetazolamide, and methoxyacetic acid can cause ectrodactyly.
Ectrodactyly occurs in two forms, either as the non-syndromic form which is associated with an isolated involvement of the limbs or the syndromic form which is associated with anomalies such as tibial aplasia, mental retardation, ectodermal defects, orofacial clefting, and deafness. Any of these two forms of ectrodactyly can be sporadic or familial with sporadic cases being more common.
This is the second case of familial ectrodactyly documented in Nigeria and the first case of ectrodactyly in a macrosomic baby reported in literature to the best of our knowledge.
| Case Report|| |
A 1-day-old male was referred to our center on account of congenital malformation of the right limb and macrosomia. His mother had her antenatal visit at a private health facility and was regular with her antenatal visits. She had ingested some unknown over-the-counter medications before she realized she was pregnant. She bleed during pregnancy at 3 months which stopped spontaneously following bed rest. She also developed hypertension in pregnancy at 8 months. She is not a known diabetic and blood sugar was normal during pregnancy. She neither smoked cigarette nor drank alcohol during pregnancy. Abdominal ultrasound done during pregnancy was essentially normal. Pregnancy was carried to term, delivery was spontaneous and vaginal, and he cried immediately after birth. He is the 3rd child and the first male child in a monogamous family. Parents attained tertiary level of education. There was no history of similar malformation in the siblings. There was also no history of consanguinity.
On examination, he was not febrile (36.5°C), not pale, and with V-shaped cleft on the right hand [Figure 1]. No other abnormality was detected on examination. He weighed 4.6 kg, with a length of 54 cm and head circumference was 36.5 cm. Random blood sugar was 80 mg/dl. He was discharged home in stable condition on the 3rd day of life and the parents counseled on the need for follow-up visit with the orthopedic surgeon.
| Discussion|| |
This is a case of non-syndromic ectrodactyly as there was no associated abnormality. Although the most common pattern of inheritance is familial, the pattern of inheritance in our patient is probably sporadic because neither parents nor his siblings had the malformation. The parents were worried about the appearance of the hand of their child and expressed fear if the child would not be able to use the hand in future. They were also worried that the child would be stigmatized in future and they were willing to pay for any procedure that would improve the function and appearance of the child considering the fact he is their first male child. This shows the premium Nigerian parents place on male infants. It is noteworthy that ectrodactyly can be treated surgically to improve appearance and function of the hand. Prosthetics may be used to avoid stigmatization and rejection because the hand is the part of the body that is usually shown during communication and is therefore exposed to the offensive gaze of people.
In the management of our patient, the parents were curious to know what caused the deformity, they also wanted to know if the condition is associated with being born a male, and if it can reoccur? These questions are often raised by parents who have children with congenital malformation. Counseling is an important aspect of management and pediatricians caring for children with congenital malformations should possess skills in counseling. We were not able to carry out chromosomal study on the child due to lack of facilities for chromosomal studies in our facility and in many centers in Nigeria. This is a big challenge encountered in clinical practice when managing children with congenital disorder in Nigeria.
Although we were not able to obtain a history of ingestion of known drugs that likely cause ectrodactyly, there was a history of ingestion of some medications during the first trimester although the names were not known to the mother. The use of non-prescription medication during the first trimester should be avoided because it is the period of embryogenesis and it might interfere with organ formation and lead to congenital malformation. This is the first documented case of ectrodactyly occurring in a macrosomic child. Other documented literatures have documented normal weights or low birth weight. This implies that the weight of a child might not play any role in causation of ectrodactyly; however, it is noteworthy that congenital abnormalities have been documented to occur in macrosomic babies.
| Conclusion|| |
A child with nonsyndromic ectrodactyly can lead a normal life if the child is well managed. Counseling is an integral part of management, and paediatricians managing children with this rare disorder should be well knowledgeable with communication skills.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form the patient(s) has/have given his/her/their consent for his/her/their images and other clinical information to be reported in the journal. The patients understand that their names and initials will not be published and due efforts will be made to conceal their identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
| References|| |
Pinette M, Garcia L, Wax JR, Cartin A, Blackstone J. Familial ectrodactyly. J Ultrasound Med 2006;25:1465-7.
Durowaye M, Adeboye M, Yahaya-Kongoila S, Adaje A, Adesiyun O, Ernest SK, et al.
Familial ectrodactyly syndrome in a Nigerian child: A case report. Oman Med J 2011;26:275-8.
Duijf PH, van Bokhoven H, Brunner HG. Pathogenesis of split-hand/split-foot malformation. Hum Mol Genet 2003;12:R51-60.
Jindal G, Parmar VR, Gupta VK. Ectrodactyly/split hand feet malformation. Indian J Hum Genet 2009;15:140-2.
] [Full text]
Seto ML, Nunes ME, MacArthur CA, Cunningham ML. Pathogenesis of ectrodactyly in the dactylaplasia mouse: Aberrant cell death of the apical ectodermal ridge. Teratology 1997;56:262-70.
Teebi AS, Farag TI. Macrosomia, microphthalmia, and early rapid or sudden infant death: A new syndrome? Pediatrics 1989;83 (4 Pt 2):647-8.