Dear Colleague,
We met jointly in a neurogenetic consultation with Dr. BARRIÈRE on 22/01/2024 with young Antoine GARCIA, born on 15/10/2020, accompanied by his two parents, for an etiological assessment of hemifacial microsomia associated with a neurodevelopmental disorder.
Regarding the family history, we recall that Antoine has an older sister born in 2014 who is in perfect health. His mother has also had 3 early spontaneous miscarriages. Antoine's parents are not related. They are both in good health. There are no contributory family histories aside from ADHD in a paternal cousin of Antoine.
As for Antoine, the pregnancy was spontaneous. No abnormalities were noted on the ultrasounds. Antoine was born at term with a weight of 3450 g (37th p) and a height of 50.5 cm (37th p). We do not have information on his head circumference (no health record).
Antoine adapted well to extrauterine life. Left hemifacial microsomia with major aplasia of the left ear was noted at birth, justifying a malformative assessment including cervical spine X-rays, renal ultrasound, and cardiac ultrasound, which were likely normal, but we do not have the conclusions. Antoine has never had a cerebral MRI.
In terms of psychomotor development, he started walking at 17 months, but stable independent walking was only achieved at 25 months, knowing that he had sat up in a delayed manner around 12 months. Currently, at the age of 3, he does not climb stairs and does not kick balls.
In terms of language, the first words appeared around 26 months, and currently, he is starting to combine a few words but with pronunciation difficulties, knows a few signed words, and is beginning to use pictograms. He would understand instructions well, recognizes some animals but does not yet know colors.
Toilet training is not yet acquired. He is, however, generally autonomous for dressing and undressing if he is willing.
There is no notion of regression. No notion of epilepsy.
He has been receiving care at CDC with psychological follow-up. He has also undergone neuropsychological assessments confirming the delay in acquisitions.
He had been seen in clinical genetics consultation two years ago, without genetic analyses at that time.
At the clinical examination today at the age of 3 years and 2 months, Antoine measures 91 cm (-1.5 SD), weighs 10.8 kg (-2 SD) with a HC of 47 cm (-2.5 SD). It is noted that he is very cooperative and smiling during the examination. We note this left hemifacial microsomia with major aplasia of the ear. There is slight asymmetry in the eyes but no obvious epibulbar dermoid. No abnormalities were noted in the intraoral examination, particularly no dental anomalies. No abnormalities of the extremities. No skin anomalies. No heart murmurs on auscultation. No masses on abdominal palpation. Straight spine without gibbus. Neurologically, the deep tendon reflexes are present and symmetrical, with no sensory-motor deficits. No cranial nerve involvement, no cerebellar syndrome, no spasticity.
In summary, Antoine presents the association of hemifacial microsomia with major aplasia of the left ear, suggesting Goldenhar syndrome, also called oculo-auriculo-vertebral syndrome, associated with a neurodevelopmental disorder.
We explain to the parents that the etiology of Goldenhar syndrome remains poorly understood to this day, with some identified genetic factors as well as environmental factors. We clarify that usually, patients do not present with neurodevelopmental disorders, making it difficult to assert that there is a link between this malformation and the observed delay in acquisitions.
In this context, we prescribe a cerebral MRI and a CGH-Array today.
We will review the case with the results of these various examinations.
I remain at your disposal for any further information.
Best regards.