|Year : 2017 | Volume
| Issue : 1 | Page : 73-76
Cleft palate associated with Turner's syndrome and anterior cervical hypertrichosis
Anil Kumar Desai, Niranjan Kumar, Sameer Pandey, Sandhya S Pavate
Department of Craniofacial Surgery and Resarch Centre, S.D.M College of Dental Sciences and Hospital, Dharwad, Karanataka, India
|Date of Web Publication||2-May-2017|
Anil Kumar Desai
Department of Craniofacial Surgery and Research Centre, S.D.M. College of Dental Sciences and Hospital, Dharwad - 580 009, Karnataka
Source of Support: None, Conflict of Interest: None
Turner's syndrome is a rare genetic disorder that affects development in female. It is associated with multiple medical issues such as impaired growth, ovarian insufficiency, cardiovascular abnormalities, and endocrine and skeletal abnormalities. Hypertrichosis is the growth of an increased quantity of thick hair on any part of the skin surface; it is mostly seen as an isolated finding but rarely associated with other abnormalities. Cleft lip and palate are uncommon anomalies in Turner's syndrome and anterior cervical hypertrichosis. We report a case of cleft palate associated with Turner syndrome and anterior cervical hypertrichosis. The clinical features, diagnosis, and its management are discussed.
Keywords: Cleft palate, hypertrichosis, Turner's syndrome
|How to cite this article:|
Desai AK, Kumar N, Pandey S, Pavate SS. Cleft palate associated with Turner's syndrome and anterior cervical hypertrichosis. J Cleft Lip Palate Craniofac Anomal 2017;4:73-6
|How to cite this URL:|
Desai AK, Kumar N, Pandey S, Pavate SS. Cleft palate associated with Turner's syndrome and anterior cervical hypertrichosis. J Cleft Lip Palate Craniofac Anomal [serial online] 2017 [cited 2020 May 29];4:73-6. Available from: http://www.jclpca.org/text.asp?2017/4/1/73/205406
| Introduction|| |
Turner's syndrome is a disorder, in which the X chromosome is absent or structurally abnormal and affects around 1 in 2000 females. It was described by Ulrich and Turner in 1938. It is characterized by short stature, ovarian insufficiency, low hair line, cubitus vulgus, and craniofacial anomalies. Anterior cervical hypertrichosis was described by Trattner and coworker in 1991, and it is characterized by a tuft of hair at the anterior cervical level just above the laryngeal prominence. We report a rare case of a female with cleft palate associated with Turner syndrome and anterior cervical hypertrichosis.
| Case Report|| |
A 14-year-old female reported to our unit with a complaint of nasal regurgitation because of defect in the palate [Figure 1]. Earlier, she was operated for cleft of soft palate on January 3, 2002, in our unit, following which a dehiscence had occurred and was left untreated for the past 12–13 years. At that time, she did not present any classical features of Turner's syndrome and anterior cervical hypertrichosis.
On clinical examination, she had a linear fistula of 1 cm (midpalatal region) and bifid uvula. On examination of the face, she had strabismus with ptosis of the right eye, dystopia [Figure 2], tuft of hair in the anterior cervical region (anterior cervical hypertrichosis) just above laryngeal prominence [Figure 3], and short maxilla with high-arched cleft palate. General physical examination revealed short stature, delayed milestones, widely spaced nipples, and cubitus vulgus [Figure 4] and [Figure 5]. On examination by a pediatrician, the patient had not attained menarche; her weight was 24 kg and height was 132 cm. Cardiovascular examination revealed ejection systolic murmur with no other significant issue.
Considering the above findings, a provisional diagnosis of Turner's syndrome with anterior cervical hypertrichosis was made. She was further subjected to thyroid function tests, ultrasonography of the abdomen and pelvis to rule out ovarian insufficiency, two-dimensional (2D) echocardiography to rule out cardiac anomalies, and chromosome analysis.
The 2D echocardiography reported a normal study, and thyroid function test was within normal limits. Ultrasound examination of the abdomen and pelvis reported missing ovaries with small uterus measuring 40 cm × 20 cm × 10 cm and thin endometrium. The chromosomal analysis (karyotype) was reported as normal female karyotype, and there was no numerical or structural anomalies detected at 450–550 banding resolution. However, a note of caution, that is, microdeletions and cryptic chromosomal deletions were unable to be detected. Hence, in view of clinical presentations with Turner's syndrome, the presence of normal karyotype prompted us to carry out molecular genetic analysis which revealed the presence of heterozygous alleles on X chromosome on next generation sequencing (NGS) that supplemented the identification of two chromosomes in the individual. Regions of complete lack of coverage on NGS could be localized to contiguous genes spanning the following regions of the X-Chromosome (Xp11.22, Xp11.23, Xq24, and Xq28). The genome-wide localized CNV (GWL CNV) algorithm suggested complete deletions of the following genes on NGS.
Considering the above clinical findings and investigations, a diagnosis of Turner's syndrome with anterior cervical hypertrichosis was made. On clearance from the pediatrician and anesthetist, the fistula was surgically corrected using rotation flap (left-sided rotation flap) and the bifid uvula was also corrected. As the patient had recurrent ear infections, ENT and audiologist's consultation was done, which revealed bilateral moderate conductive hearing loss.
| Discussion|| |
Turner syndrome is a symptom complex syndrome which is also called XO syndrome or Bonnevie-Ullrich syndrome. It is characterized by the presence of only one normal functioning X chromosome, the other X chromosome can be missing or abnormal. The incidence of Turner's syndrome is 1:2000–1:5000 and it is more commonly seen in females. Our patient was a female and exhibited low stature, broad chest, low-posterior hair line, high-arched palate, mild ptosis, and moderate conductive hearing loss bilaterally. However, she did not have any renal or cardiac malformation. The association of cleft palate with Turner syndrome is very rare, only one or two cases have been reported in literature, but its association of anterior cervical hypertrichosis with cleft palate and Turner syndrome is the differentiating feature of this case, which makes it the first ever case to be reported in literature.
The characteristics of children and adolescents that lead to medical consultations are short stature, failure to initiate puberty, and absence of breast development. Our patient also did not attain menarche, and there was an absence of breast development.
Our patient exhibited most of the features of Turner's syndrome as mentioned in the literature. One key feature of this case is late diagnosis as the patient reported late. The early diagnosis is crucial to ensure that treatment with growth hormone has the maximum effect on final height. In addition, early diagnosis has several potential advantages for the care of patient with incomplete or absence of puberty and improvement in bone health. As mentioned in the literature, most patients were diagnosed because of short stature by pediatrician. In our case also, diagnosis was made because of short stature and other findings. Furthermore, the chromosomal analysis was carried out which was reported as normal female karyotype (46XX); however, the investigation was unable to detect microdeletions and cryptic chromosomal deletions. However, Fernandes S et al, have mentioned in literature that cytogenetically, Turner's syndrome is characterized by sex chromosome monosomy (45, X) in phenotypically female individuals and this karyotype is found in 50–60% of the cases. The remaining cases are mosaics with a 45, X cell line plus a normal line (46, XX), 47, XXX, and/or structural anomalies (chromosomes of the long arm, dicentric chromosomes, and deletion of the short arm or ring chromosomes). This is found in ~30% of the cases.
As per the information provided by the National Institute of Health, the diagnosis of abnormal X-chromosome may require specialized, molecular cytogenetic studies to identify small deletions or inversions of X-chromosome material. Hence, molecular genetic analysis was carried out to identify small deletions of X-chromosomes which revealed the genome-wide localized CNV (GWL CNV) algorithm that suggested complete deletions of the following genes on NGS.
Hypertrichosis is the growth of an increased quantity of thick hair on any part of the skin surface. It should not be confused with hirusitim which is the growth of terminal hair with masculine distribution occurring in women. Hypertrichosis is divided into congenital and acquired depending on the age of onset and localized or generalized depending on extension. The different types of localized hypertrichosis are anterior cervical hypertrichosis, posterior cervical hypertrichosis, lumbosacral hypertrichosis, and hypertrichosis cubiti. Its etiology is still unknown and is believed to be an autosomal recessive, and X-linked dominant inheritance has also been suggested. In our patient, it was localized and was seen in the anterior cervical region just above the laryngeal prominence. It is predominantly seen in females which is similar in our case. It is commonly seen as an isolated finding but can be associated with other abnormalities such as facial dysmorphism, microcephaly, low stature, ophthalmologic disorders, mental retardation, and Turner's syndrome. Our patient exhibited most of the associated anomalies mentioned in the literature. The treatment option in hypertrichosis is cosmetic, and the available methods include bleaching, temporary or permanent methods of hair removal such as shaving, physical or chemical depletion, electrolysis, and laser. Parents of the patient were not interested for any treatment for this condition at present. In literature, till date, only forty cases of isolated anterior cervical hypertrichosis have been described, but its association with cleft palate and Turner syndrome has not been described till date. This is the only case which shows the association of cleft palate with Turner's syndrome and anterior cervical hypertrichosis.
| Conclusion|| |
The late diagnosis and variable phenotypic expression is the key feature of Turner's syndrome. Awareness of the common findings in Turner's syndrome and structured approach to imaging, investigating, and follow-up will provide maximum yield in terms of early identification and management of a wide range of potentially serious conditions. It is of utmost importance to council the patients and their families regarding controversies and discuss with them to take good care of their health.
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.
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Conflicts of interest
There are no conflicts of interest.
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[Figure 1], [Figure 2], [Figure 3], [Figure 4], [Figure 5]