Goldenhar syndrome is a rare and usually sporadic with a heterogeneous nature with an unknown etiology. It is rarely reported with trisomy 18. We want to present a case with the diagnosis of Goldenhar syndrome along with a genetic diagnosis of trisomy 18.
trisomy 18, goldenhar syndrome, ear anomaly
Trisomy 18 is characterized by severe psychomotor and growth retardation, microcephaly, microphthalmia, ear malformations, microretrognathia, marked clinodactyly, and cardiac, gastrointestinal, and renal abnormalities . Its prevalence ranges between 1/3600 and 1/8500 . Goldenhar syndrome is a rare and usually sporadic with a heterogeneous nature with an unknown etiology . Its prevalence has been reported to range from 1/5600 to 26550 . The diagnosis is based on the presence of at least two of the orocraniofacial, ocular, auricular, and vertebral findings . Herein, we present a case with the diagnosis of Goldenhar syndrome along with a genetic diagnosis of trisomy 18.
A male baby, born through a Cesarean section with a birth weight of 1380 g at the 34th gestational week to his 40-year-old mother’s eighth pregnancy due to fetal distress was admitted to our clinic with the diagnoses of premature birth and intrauterine growth limitation. Upon physical examination, the baby had a right radius aplasia, clinodactyly in the fingers of his hand, microretrognathia, low-set ears, bilateral outer ear malformation, hypertelorism, bilateral ptosis, large anterior fontanelle, and triangular face (Figure 1A). Diagnostic studies revealed cardiac abnormalities including a large ventricular septal defect (VSD), atrial septal defect (ASD), patent ductus arteriosus (PDA), and pulmonary hypertension. Abdominal ultrasonography showed esophageal atresia in the gastrointestinal system and renal cystic dysplasia. A genetic diagnosis of trisomy 18 was made. A bilateral lagophthalmos was detected on ophthalmological examination. On the repeated physical examination, the findings of specific pinnae abnormality and facial asymmetry along with bilateral mandible hypoplasia suggested Goldenhar syndrome (Figures 1A and 1B). The patient died due to respiratory failure and severe pulmonary hypertension on postnatal Day 20.
Figure 1A-B. The findings of specific pinnae abnormality and facial asymmetry along with bilateral mandible hypoplasia suggested Goldenhar syndrome.
Despite reports in the literature of a clinical condition usually characteristic of Edwards' syndrome, craniofacial alterations may show variable in these patients. In Rosa et al. study, only 4% of subjects had simultaneously all the main findings . The main changes observed in the literature were microretrognathia and dysplastic ears/ear helix abnormalities. Those are described in usually 80% of patients. In our case, the newborn has also both anomaly. The goldenhar syndrome could be considered a potential differential diagnosis for trisomy 18 . The findings related to goldenhar syndrome include anomalies, normally asymmetric, of ears, face, eyes, and spine . In our case, pinnae abnormality and facial asymmetry along with bilateral mandible hypoplasia suggested Goldenhar syndrome.
In conclusion, the presence of an ear abnormality is mandatory for the diagnosis of Goldenhar syndrome in particular . The presence of findings of Goldenhar syndrome including facial asymmetry, micrognathia, and periauricular extensions with the diagnosis of trisomy 18 suggested the diagnosis of Goldenhar syndrome in our case. A few number of cases with the association of Goldenhar syndrome and trisomy 18 have been reported in the literature . It should be kept in mind that some other conditions such as Goldenhar syndrome can be present in cases with trisomy 18 in which some abnormalities manifesting with non-specific findings are detected.
- Carter PE, Pearn JH, Bell J, Martin N, Anderson NG (1985) Survival in trisomy 18. Life tables for use in genetic counseling and clinical paediatrics. Clin Genet 27: 59-61. [Crossref]
- Kinoshita M, Nakamura Y, Nakano R, Morimatsu M, Fukuda S, et al. (1989) Thirty-one autopsy cases of trisomy 18: clinical features and pathological findings. Pediatr Pathol 9: 445-457. [Crossref]
- Strömland K, Miller M, Sjögreen L, Johansson M, Joelsson BM, et al. (2007) Oculo-auriculo-vertebral spectrum: associated anomalies, functional deficits and possible developmental risk factors. Am J Med Genet A 143A: 1317-1325. [Crossref]
- Rosa RF, Rosa RC, L2021 Copyright OAT. All rights reservl. (2013) Craniofacial abnormalities among patients with Edwards Syndrome. Rev Paul Pediatr 31: 293-298. [Crossref]
- Verloes A, Seret N, Bernier V, Gonzales M, Herens C, et al. (1991) Branchial arch anomalies in trisomy 18. Ann Genet 34: 22-24. [Crossref]