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CASE REPORT
Year : 2023 | Volume
: 31
| Issue : 1 | Page : 23-26
Acrofacial dysostosis with microtia-anotia: Nager syndrome in reconstructive plastic surgery
Ali Riza Oreroglu1, Ilker Uscetin2, Mithat Akan3
1 Private Practice, Dr. Öreroğlu Clinic, Istanbul, Turkey
2 Department of Plastic Reconstructive & Aesthetic Surgery, Prof. Dr. Cemil Taşcıoğlu City Hospital, Istanbul, Turkey
3 Private Practice, Klinik Istanbul, Istanbul, Turkey
Correspondence Address:
Dr. Ali Riza Oreroglu
Maçka Cd. No: 24/28 Narmanlı Apt. Teşvikiye Nişantaşı, 34367 Şişli, Istanbul
Turkey
Source of Support: None, Conflict of Interest: None
DOI: 10.4103/tjps.tjps_39_22
Microtia-anotia is a congenital anomaly of the ear encountered commonly by a plastic and reconstructive surgeon. Although it may be seen as an isolated condition, microtia-anotia may be part of a syndrome such as mandibulofacial synostosis. A very rare condition however is the preaxial acrofacial synostosis, or Nager syndrome (NS), with which the plastic and reconstructive surgeon may not be familiar. Less than 100 NS cases have been reported to date, mostly including major mandibulofacial anomalies. We hereby report the first case from the Mediterranean region of a late microtia-anotia exhibiting specific anomalies resembling a mild form of NS. Through systemic examination, we also identified in combination a cardiac anomaly (ventricular noncompaction cardiomyopathy) that has not been previously linked to this syndrome in the literature, hence the first report of this cardiac anomaly in NS.
Level of Evidence: Level IV, case report.
Keywords: Acrofacial dysostosis, anotia, Nager syndrome, microtia, noncompaction cardiomyopathy
Microtia-anotia is a group of congenital ear anomalies ranging from mild structural deformities to complete absence of the ear[1] that may occur as an isolated condition or as part of a syndrome. Children with microtia-anotia have an associated anomaly or an identifiable syndromic pattern in 20%–60% of cases. The most common associated anomalies are facial cleft, facial asymmetry, renal abnormalities, cardiac defects, microphthalmia, polydactyly, and vertebral anomalies.[1]
Acrofacial dysostosis (AFD) is a term coined by Nager and de Reynier[2] in 1948, combining mandibulofacial dysostosis (micrognathia and ear anomalies) with limb defects. AFD syndromes are an etiologically heterogeneous group of disorders with undefined inheritance. Many AFD cases have been described in the literature; however, it is unclear whether or not all these different AFD cases represent distinct syndromes.[3],[4] In 1994, Opitz et al. suggested basic classification into preaxial form: Nager syndrome (NS), and postaxial forms: Miller syndrome and Beckwith–Wiedemann syndrome,[3],[5] where preaxial and postaxial refer to the axis of the embryo limb (preaxial would be the side of the thumb and big toe).
Nager anomaly (AFD) is a rare syndrome with fewer than 100 cases reported in the literature to date,[6],[7],[8] exhibiting craniofacial features similar to mandibulofacial dysostosis (mandible, temporomandibular joint, outer and middle ear structures, and mid-facial area affected to varying degrees) coupled with preaxial reduction defects of the upper and sometimes the lower limbs.[9] Extremity anomalies are considered diagnostic criteria which separate NS from other brachial arch-derived syndromes. The ear lobes may be rudimentary and low set, with hypoplastic malar areas and severe micrognathia.[10] Defective or ankylosed temporomandibular joint, absence or a cleft of the soft or hard palate, and laryngeal and epiglottic hypoplasia have also been reported.[11] The tongue may be ankylosed, and the anatomical deficits in the oral cavity cause speech problems.[10] Because of defective auditory meatus, these patients often suffer from conductive hearing loss.[10] There is hypoplasia or agenesis of the thumbs, radius, and one or more metacarpals.[12] The radius is hypoplastic or absent in 50% of the cases.[9] Affected individuals are typically of short stature and have anomalies in the spinal column.[9],[13] Most patients express normal intelligence.[14],[15]
We hereby report a late case of microtia-anotia scheduled for ear reconstruction exhibiting specific anomalies, resembling a mild form of NS in combination with a rare cardiac anomaly, not previously linked to NS. In addition, this would be the first report of NS from Turkey and the Mediterranean region.
Case ReportOur case is a 14-year-old female patient who visited our clinic with unilateral microtia-anotia, asking for ear reconstruction. Her history revealed unilateral congenital microtia-anotia, and there was neither history of prenatal drug use, maternal alcohol consumption, smoking, nor any other gestational exposure to teratogens. The family history did not show any case of similar congenital anomaly or any diagnosed syndrome. The patient complained of chronic gastroesophageal reflux, for which she was having medication.
Physical examination revealed a short stature, with a right-sided microtia-anotia lacking the helix, antihelix, scapha, and concha, representing a grade-4 ear malformation [Figure 1]. A remnant lobule was visible with a closed external auditory meatus. ENT consultation revealed normal hearing capacity of the affected ear. Remnant tragus and accessory tragi were observed; however, the whole ear complex was situated lower when compared to the normal contralateral side. The mandible was asymmetrical showing a mild right-sided hemimandibular microsomia. Mild right orbital dystopia was observed with normal vision. Oral examination revealed a high but short palate, resulting in velopharyngeal insufficiency and abnormal speech. Motor examination revealed unilateral right-sided peripheral cerebral nerve VII palsy that was also congenital. On examination of the limbs, the right forearm was measured to be much shorter than the contralateral side with a mild radial deviation. Total aplasia of the right thumb was observed [Figure 2]. The contralateral upper limb was natural.
Figure 1: Unilateral right-sided microtia-anotia, hemimandibular microsomia and right-sided orbital dystopia; upper-left: frontal view; upper-right: left side (normal ear); lower-left: right side (microtia-anotia); lower-right: basal view, right hemimandibular microsomia and malar depression are seen
Figure 2: Upper limb anomalies: short forearm and aplastic thumb in the right handThe patient was also consulted in the pediatric ward for complete internal examination. Pediatric consultation revealed a normal intellectual level and auscultatory findings, demonstrating an asymptomatic systolic murmur II/VI heard best along the upper left sternal border that was further consulted with a pediatric cardiologist, revealing an isolated ventricular noncompaction cardiomyopathy (which is a rare congenital cardiomyopathy on its own)[16],[17][Figure 3]. Physically, pediatric examination also revealed a shorter right forearm with a mild radial deviation including total right thumb aplasia. Spinal examination was normal. The patient was further consulted for genetic analysis and numerical (quantitative) and structural (qualitative) chromosomal anomalies through short-term cell culture on blood samples using the trypsin and Giemsa banding method. 25 metaphases were evaluated in the 500–550 band resolution with karyotypic evaluation on 5 metaphases revealing a cytogenetic analysis of a normal female karyotype.
Figure 3: Cardiac dynamic MRI axial slice showing increased trabeculation of the left ventricle at the midventricular level (trabecular: nontrabecular ratio >2)The patient was operated and auricular cartilage framework was reconstructed from the contralateral 6th–8th costochondral cartilage graft. The carved graft was placed under the auricular skin flap and negative-pressure suction applied, hence the first stage of microtia-anotia repair [Figure 4]. The postoperative period was free of any complications, and the cardiomyopathy was scheduled to be observed routinely by the cardiologist.
Figure 4: Auricular cartilage framework; left: frame reconstructed from the 6th–8th costochondral cartilage graft; right: graft placed under the auricular skin flap, hence the first stage of microtia-anotia repair Discussion Craniofacial findings in our case include mild mandibular microsomia, right facial-nerve palsy, orbital dystopia, low-set microtia-anotia, upper limb malformations consisting of aplastic thumb, short forearm, and decreased mobility of the elbow articulation, evidence of gastroesophageal reflux that has been linked to NS,[18] and cardiac anomalies, suggesting a clinically diagnosed mild form of NS. Short-term cell culture for cytogenetic evaluation revealed a normal female karyotype.
Mandibular hypoplasia tends to be more severe in NS than in Treacher–Collins syndrome, with mandibular malformations and missing joint structures, contributing to extreme restriction in jaw movement.[9],[13],[18] Cleft palate is common while partial congenital absence of the soft palate has also been reported. Our case however shows a mild mandibular microsomia, probably as part of mandibulofacial dysostosis, taking into account the orbital dystopia and facial nerve palsy. There is no cleft palate, but the palate is high and short, which can be the cause for speech abnormality. Speech difficulties can arise from impaired hearing, as well as velopharyngeal insufficiency;[18] the latter is probably the case with our patient.
Limb defects, particularly preaxial anomalies, and thumb aplasia are of diagnostic significance in NS and serve to differentiate this condition from mandibulofacial dysostosis. Approximately 50% of cases may present radial hypoplasia or aplasia, which is believed only to occur with concurrent agenesis of the thumb; the condition totally fits in the case presented.
Familiar occurrence of NS and both recessive and dominant autosomal inheritance have been reported,[14],[19],[20] with NS also considered a pleiotropic disorder of variable penetrance and expressivity.[6] Most new cases however are sporadic and not related to a specific syndrome. Cytogenetical studies have shown possible mutations in the locus 9q32,[21] partial deletion of the long arm of chromosome 1,[22] zinc finger protein-37 in locus 9q32,[23] or a chromatin gap within the band 3p14;[24] however, most cases show no genetic abnormality. The patient presented in this article has undergone a cytogenetic analysis through short-term cell culture for numerical and structural chromosomal anomalies, revealing no defect in any of the chromosomes. Taking into account that most cases of NS do not show any genetic abnormality, we believe that this case can be considered in this aspect through clinical diagnosis.
The literature reveals that less than 100 NS cases have been reported to date, with no report of the syndrome from Turkey.[9],[13],[18] Although the cytogenetic analysis performed does not reveal a chromosomal structural and numerical defect for NS in our case, we believe that this case may be a mild sporadic form of this syndrome. We emphasize a syndromic set of mild characteristics that, when investigated properly, point out association with preaxial acrofacial dysostosis, hence NS.
Noncompaction of the left ventricle, a rare congenital cardiomyopathy with a reported incidence of 0.05%–0.24%, can lead to sudden cardiac death, particularly among children, if left undetected.[16] This anomaly has been shown in combination with a variety of syndromes;[17] however, this is the first NS case in which this anomaly has been shown. Incidental identification of this cardiac anomaly through pediatric consultation in our case who just requested microtia-anotia reconstruction enabled proper follow-up of this rare cardiac anomaly by the pediatric cardiologist.
Awareness of such a syndrome in cases of mandibular microsomia and microtia when combined with congenital anomalies present in the extremities enables the reconstructive surgeon to identify other mandibulofacial, extremity and visceral anomalies and therefore ask for necessary consultations, making proper identification of this or any other genetic syndrome.
Informed consent
Informed consent has been acquired by the authors for publication of this case.
Ethical clearance
All procedures performed in studies involving human participants were in accordance with the ethical standards of the institutional and/or national research committee and with the 1964 Helsinki Declaration and its later amendments or comparable ethical standards.
Declaration of patient consent
The authors certify that they have obtained all appropriate patient consent forms. In the form, the patient's parent has given her consent for her images and other clinical information to be reported in the journal. The patient's parent understands that her name and initials will not be published and due efforts will be made to conceal identity, but anonymity cannot be guaranteed.
Financial support and sponsorship
Nil.
Conflicts of interest
There are no conflicts of interest.
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