|Year : 2022 | Volume
| Issue : 1 | Page : 38-41
Hypertelorism-microtia-clefting syndrome in a 9-month-old child: A rare case report
Supreet Shirolkar, Rajib Sikdar, Khooshbu Gayen, Anisha Bag, Santanu Mukhopadhyay, Subir Sarkar
Department of Pedodontics and Preventive Dentistry, Dr. R. Ahmed Dental College and Hospital, Kolkata, West Bengal, India
|Date of Submission||29-Mar-2021|
|Date of Acceptance||26-Apr-2021|
|Date of Web Publication||04-Jan-2022|
Department of Pedodontics, 2C, Dr. R. Ahmed Dental College and Hospital, Kolkata - 700 014, West Bengal
Source of Support: None, Conflict of Interest: None
Hypertelorism-microtia-clefting (HMC) syndrome is a very rare autosomal recessive disorder. HMC syndrome is malformation of orofacial region characterized by hypertelorism, microtia, and cleft lip and palate. Additional features such as microcephaly, congenital heart disease, and kidney abnormalities can also be present in HMC syndrome. Only few case reports of this syndrome have been documented in dental literature. In the article, we report a case of 9-month-old girl child presenting with typical features of this syndrome. The rarity of the syndrome prompted us to report the case.
Keywords: Cleft lip, cleft palate, presurgical nasoalveolar molding
|How to cite this article:|
Shirolkar S, Sikdar R, Gayen K, Bag A, Mukhopadhyay S, Sarkar S. Hypertelorism-microtia-clefting syndrome in a 9-month-old child: A rare case report. J Oral Res Rev 2022;14:38-41
|How to cite this URL:|
Shirolkar S, Sikdar R, Gayen K, Bag A, Mukhopadhyay S, Sarkar S. Hypertelorism-microtia-clefting syndrome in a 9-month-old child: A rare case report. J Oral Res Rev [serial online] 2022 [cited 2022 Jun 27];14:38-41. Available from: https://www.jorr.org/text.asp?2022/14/1/38/334824
| Introduction|| |
The association of hypertelorism, microtia, and cleft lip and palate (hypertelorism-microtia-clefting [HMC] syndrome MIM 239800) is an autosomal recessive disorder. The syndrome was first observed in two female siblings who presented with hypertelorism, unilateral cleft of lip and palate, ear anomalies, nasal cleft, and congenital microcephaly. Schweckendiek et al. (1976) described similar features in monozygotic twins. Till now, only seven papers presenting 11 cases have been published in the literature from 1969 to 2009 (Bixler et al.; Schweckendiek et al.; Baraitser; Fontaine et al.; Verloes; Amiel et al.; and Ghoumid et al.). In this article, we present a case of HMC syndrome in a 9-month-old girl child.
| Case Report|| |
A 9-month, 23-day-old female child with unilateral cleft of lip and palate was referred to the Department of Pedodontics and Preventive Dentistry, Dr. R. Ahmed Dental College and Hospital. Parents had a chief complaint that the baby was having difficulty drinking milk either through the bottle or through the breast and that the liquids were coming out from the nose. On oral examination, an infant displayed a unilateral cleft lip and palate with absent premaxilla and microstomia, the cleft was found to be extended up to soft palate. Columella was adherent with the alveolus. A supernumerary lateral incisor was erupted in anterior region. Extraoral examination displayed hypertelorism with depressed nasal bridge and right-sided microtia [Figure 1].
|Figure 1: Picture of infant showing features of hypertelorism, unilateral microtia, and cleft lip associated with cleft palate|
Click here to view
There was nonsignificant antenatal history as there was no exposure to any kind of viral infections, alcohol, radiation, or drugs. History also revealed that postnatally during 4th day after birth; newborn suffered from pseudomonas infection which led to discharge and desquamation of the cleft lip. At day 6, necrotizing hemorrhagic lesion involving cleft area of the face was seen with episode of convulsion. The patient had hypothyroidism for which infant was on medication on eltroxin 50. There was no known family history of any cleft lip and palate or any other craniofacial anomalies. Parents reported the marriage to be of consanguineous type. There were not any anomalies related to cardiovascular, gastrointestinal, or genitourinary system. Digits of the hands and legs were normal. By comparing these phenotypic characteristics with the previously reported stigmata in this syndrome, it was diagnosed as a possible HMC syndrome. Presurgical nasoalveolar molding was planned as a part of the management of cleft lip and cleft palate. Primary impression was taken by modeling wax [Figure 2], and primary cast was made [Figure 3]. Secondary impression was taken by medium body putty, mold was poured by die stone, and secondary cast was made. Nasoalveolar acrylic plate was fabricated on secondary cast [Figure 4]. Unfortunately, the treatment did not progressed as planned as the patient did not reported due to COVID-19 pandemic, and we could not deliver appliance.
| Discussion|| |
In 1969, the HMC syndrome was newly elucidated by Bixler et al. in two white female siblings who had characteristic features such orbital hypertelorism, microtia, and clefts of lip, palate, and nose. Schweckendiek et al. have since reported on monozygotic twins. Baraitser has added a single case of 1-month-old male infant with unilateral left-sided cleft lip in association with cleft palate, gross hypertelorism, a broad bifid nose, and narrow palpebral fissure, with no reported abnormality of heart and the kidney. In 2001, Amiel et al. reported two male patients with normal intelligence having hypertelorism, microtia, and facial clefting syndrome. Schweckendiek et al. and Bixler et al. particularly advocated the mode of inheritance of this syndrome as a autosomal recessive. Verloes reported a patient with HMC syndrome, born from consanguineous parents which confirmed the existence of the HMC syndrome as a rare autosomal recessive disease. In the heterozygotes, the occurrence of facial clefts in relatives may represent partial expression and may indicate that the homozygous state for one of the clefting genes is HMC syndrome. Ghoumid et al. confirmed a prenatal diagnosis of HMC syndrome in two siblings fetuses from unrelated parents and reported pattern of inheritance as autosomal recessive. The case report described here shows the following symptoms that are consistent with the two sisters explained by Bixler et al. hypertelorism, microtia, cleft of upper lip and palate, microstomia, and supernumerary lateral incisor. Among the other things, they differ in microcephaly, congenital heart disease, and kidney anomalies.
The three main features recognized in the present case, including cleft palate, ocular anomaly, and auricular anomaly, can be seen in syndromes other than HMC syndrome such as Mohr syndrome (oral-facial-digital [OFD] II), Robin's anomaly, and Goldenhar syndrome. However, the three syndromes mentioned above can be distinguished from HMC syndrome, even with these three characteristics. The tongue nodules, midline cleft lip, cleft palate, broad nose, and hyperplastic frenula are differentiated by OFD II, Robin anomaly has no hypertelorism as the eye anomaly, Goldenhar syndrome is typically presented with epibulbar dermoids, mandibular hypoplasia, and vertebral anomaly. Moreover, in these syndromes, other similar anomalies are varied and trait of each other. Robin sequence has several defects of the limb with congenital heart disease including pre/postaxial hand anomalies, clubhand, and clubfoot. The multiple digital anomalies, primarily polydactyly, distinguish OFD II from HMC syndrome. Goldenhar syndrome has congenital heart diseases, renal and central nervous system anomaly. [Table 1] is listed the features of the HMC syndrome, Robin syndrome, Goldenhar syndrome, and Mohr syndrome. Conversely, the major common anomalies present in HMC syndrome are confined to the craniofacial region.
|Table 1: Correlation of the clinical findings of Mohr syndrome, Robin syndrome, and Goldenhar syndrome with hypertelorism-microtia-clefting syndrome|
Click here to view
The management of HMC syndrome involves a collaborative approach. It requires the services and the resources of patient care coordinator, obstetrician, general surgeon, plastic surgeon, pediatrician, ear, nose, and throat surgeon oral surgeon, pediatric dentist, orthodontist, speech therapist, neurologist, prosthodontist, psychologist, audiologist, genetic counselor, and nurse. Managing the problems associated with the feeding and the nasal regurgitation of fluids is the primary concern for the multidisciplinary cleft palate team. Nasoalveolar molding is a nonsurgical technique of reshaping the alveolus, lips, and nostrils should be carried out by fabricating plastic plate or also called as presurgical nasoalveolar molding appliance before cleft lip and palate surgery, to reduce the severity of the cleft.
| Conclusion|| |
HMC syndrome is a extremely rare condition, which have a limited representation in the literature, and this prompted us to report the case. The diagnosis of HMC syndrome is important for patient information and genetic counseling, so it must be properly diagnosed and managed appropriately to avoid further complications. Our case report attempts to highlight the aspects of this unusual anomaly.
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|| |
Bixler D, Christian JC, Gorlin RJ. Hypertelorism, microtia, and facial clefting. A newly described inherited syndrome. Am J Dis Child 1969;118:495-500.
Schweckendiek W, Hillig U, Kruse E, Rodeck G, Wendt GG. HMC syndrome in identical twins. Hum Genet 1976;33:315-8.
Baraitser M. The hypertelorism microtia clefting syndrome. J Med Genet 1982;19:387-8.
Amiel J, Faivre L, Marianowskl R, Bonnet D, Couly G, Manach Y, et al
. Hypertelorism-Microtia-Clefting syndrome (Bixler syndrome): Report of two unrelated cases. Clin Dysmorphol 2001;10:15-8.
Verloes A. Hypertelorism-Microtia-Clefting (HMC) syndrome. Genet Couns 1994;5:283-7.
Ghoumid J, Ansart-Franquet H, Subtil D, Pasz N, Devisme L, Amiel J, et al
. Hypertelorism-Microtia-Clefting syndrome (HMC syndrome): Prenatal diagnosis in two siblings. Prenat Diagn 2009;29:1064-5.
Havle A, Shedge S, Malashetti S, Jain V. Oro-facial-digital syndrome type II with otolaryngological manifestations. J Oral Maxillofac Pathol 2015;19:266.
] [Full text]
Smith JL, Cavanaugh JJ, Stowe FC. Ocular manifestations of the Pierre Robin syndrome. Arch Ophthalmol 1960;63:984-92.
Martelli-Júnior H, Miranda R, Fernandes C, Bonan P, Paranaíba L, Graner E, et al
. Goldenhar syndrome: Clinical features with orofacial emphasis. J Appl Oral Sci 2010;18:646-9.
Goodman RM, Gorlin RJ. Atlas of the Face in Genetic Disorders. 2nd
ed. St. Louis: C. V. Mosby Co.; 1977. p. 51-2.
[Figure 1], [Figure 2], [Figure 3], [Figure 4]