|Year : 2020 | Volume
| Issue : 2 | Page : 143-145
Rare presentation of ectrodactyly in trisomy 13
Wafaa Al Rawi1, Kamal Mustafa2, Ashraf Abuobayda1, Laila Obaid3
1 Department of Paediatrics, SSMC Hospital, Abu Dhabi, United Arab Emirates
2 Department of Paediatrics, Al Dhafra Hospital, Abu Dhabi, United Arab Emirates
3 Department of Neonatology, Corniche Hospital, Abu Dhabi, United Arab Emirates
|Date of Submission||20-Dec-2016|
|Date of Decision||31-Dec-2016|
|Date of Acceptance||04-Jan-2020|
|Date of Web Publication||21-Apr-2020|
Dr. Laila Obaid
FRCPC, Division Chief Department of Neonatology, Corniche Hospital, Abu Dhabi
United Arab Emirates
Source of Support: None, Conflict of Interest: None
Trisomy 13 (Patau syndrome) is third common trisomy and associated with multiple congenital anomalies including limb malformation like polydactyly. However, the presence of ectrodactyly or split-hand and/or foot malformation, a lobster claw-like appearance of the hand and/or foot, which may occur as an isolated entity or as part of a syndrome, in trisomy 13 is uncommon. This is a case report of a rare presentation of trisomy 13 with ectrodactyly or split-hand malformation. To the best of our knowledge, only a few isolated reports of ectrodactyly in trisomy 13 such our patients have been documented in the literature, and this could be one of the few reported cases to show such association.
Keywords: Ectrodactyly, split-hand/foot malformation, trisomy 13
|How to cite this article:|
Al Rawi W, Mustafa K, Abuobayda A, Obaid L. Rare presentation of ectrodactyly in trisomy 13. J Clin Neonatol 2020;9:143-5
| Introduction|| |
Trisomy 13, a well-recognized, multiple congenital anomalies syndrome, is commonly associated with limb malformation and the most commonly prescribed limb malformation in trisomy 13 is polydactyly.
Ectrodactyly is a rare complex limb malformation affecting the central rays of the hands and/or feet and much rarer when it present in trisomy 13.
Here, we present a rare finding of ectrodactyly in a trisomy 13 case and highlight how the early diagnosis helped the baby, the parents as well as the clinicians to avoid unnecessary procedures and investigations.
| Case Report|| |
A full-term male baby born by emergency C-section due to breech presentation to multiparas mother with poor antenatal care with the Apgar scores of 5 and 6 at 1 and 5 min, respectively and birth weight of 2.8 kg. The baby was noted to be hypotonic with multiple anomalies and required resuscitation at birth and admitted NICU for support.
On physical examination, the infant had port-wine stain over the whole forehead, bilateral microphthalmia, bilateral cleft lip and palate [Figure 1], bilateral malformed and apparently low-set ears [Figure 1] and [Figure 2], bilateral cryptorchidism, and bilateral split-hand malformation (SHM) with lobster claw-like appearance [Figure 3]. The left hand has four fingers (oligodactyly) and deep medial cleft, and the right hand has two fingers (bidactyly) separated also by deep cleft [Figure 4]. Neurological and ophthalmological examination revealed profound head lag, generalized hypotonia, iris coloboma, and bilateral retinal coloboma involving the optic nerve. Ultrasound evaluation of the brain and renal system showed lobar holoprosencephaly and bilateral hydronephrosis, while echocardiography showed small patent ductus arteriosus and atrial septal defect.
|Figure 1: Port-wine stain, bilateral microphthalmia, bilateral cleft lip and palate, and malformed ears|
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|Figure 3: Bilateral cryptorchidism, and bilateral split lobster claw-like hands|
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|Figure 4: The left hand has four fingers and deep medial cleft, and the right hand has two fingers separated by a deep cleft|
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A karyotype chromosomal analysis of blood sample by GTG banding technique diagnosed male karyotype with an additional chromosome 13 (47, XX + 13) in all cells analyzed (the number of cells karyotyped was 5 cells, and the number of metaphases counted was 20). Trisomy 13 was confirmed, and the parents referred for genetic counseling. The baby developed recurrent infection and hypernatremia and died at the age of 2 months.
| Discussion|| |
Trisomy 13 is a common trisomy of autosomal chromosomes, in which all or a portion of chromosome 13 appears three times (trisomy). Since its first description by Patau et al. (1960) several anomalies, involving many organs and systems, has been described. It is generally associated with a severe intellectual and physical disability, and the majority of trisomy 13 die soon after birth or during the 1st year of life. There are multiple malformations commonly presented in trisomy 13, including scalp defects, hemangiomas of the face and nape of the neck, cleft lip and palate, malformations of the heart, and abdominal organs and limbs defects. One of the rare limb defects in trisomy 13 is ectrodactyly. Ectrodactyly may present with syndactyly, oligodactyly, median clefts of the hands, and feet or aplasia and/or hypoplasia of the phalanges, metacarpals, and metatarsals. Hands can be affected alone (SHM) or hands and feet can be involved (split-hand and/or foot malformation) split hand may be isolated or associated with syndromes such as EEC (ectrodactyly, ectodermal dysplasia, and cleft lip or palate), Roberts syndrome, Hartsfield syndrome, and others.
Hartsfield syndrome (OMIM 615465) is caused by a heterozygous mutation in the FGFR1 gene on chromosome 8p11 and characterized by the triad of holoprosencephaly, ectrodactyly, and cleft lip/palate. While EEC3 syndrome (OMIM 604292) is due to a heterozygous mutation in the TP63 gene on chromosome 3q28 and comprising ectrodactyly, ectodermal dysplasia, and cleft lip/palate syndrome. Another form of the EEC disorder, designated as EEC1 (OMIM 129,900) and has been linked to chromosome 7q11.2-q21.3 is also characterized by the cardinal triad of features of split-hand/foot malformation, ectodermal dysplasia, and cleft lip with or without cleft palate.
Although trisomy 13 can be suspected at birth from the phenotype of the infant, the karyotype chromosomal analysis test is required to confirm the diagnosis. In our case and before karyotype, the trisomy 13 was among our differential diagnoses. However, the presence of bilateral ectrodactyly of hands has pushed the Hartsfield and EEC (ectrodactyly, ectodermal dysplasia, and cleft lip or palate) syndromes to the top of the list.
While it is generally agreed that ectrodactyly is rare in affected infants with trisomy 13, few literatures showed that ectrodactyly can be part of the limb malformations in such cases.,,,
| Conclusion|| |
The phenotype of trisomy 13 may easily suggest the diagnosis that can be confirmed by a simple karyotype analysis test. However, the presence of unusual clinical features suggests different differential diagnosis that directs the investigator to do more complicated tests. Thus, the common diagnosis should be considered first in the differential diagnosis list and excluded before turning toward rarer etiologies. Our findings expand the clinical features of Trisomy 13, which may make the early identification of these patients challenging.
In such cases, it is recommended that balanced approach should be taken when diagnosis, support for the child, and the family should be provided and genetic counseling to the family is strongly advocated.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the legal guardian has given his consent for images and other clinical information to be reported in the journal. The guardian understands that names and initials will not be published, and due efforts will be made to conceal the identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4]