Dear Colleague,
On 18/11/2021, we saw the child AMÉDÉE DUHAMEL born on 20/02/2019 in a genetics consultation due to postnatal growth retardation with a history of hexadactyly operated on in all four limbs.
Family history:
Amédée is the first child of a non-related Caucasian couple in good health.
Both parents are in good health. The target parental height is 168 cm (-1 DS).
Amédée has a paternal half-brother, Gill born on 14/07/2017, who is healthy and does not present any growth issues.
A maternal great-aunt reportedly had bilateral hexadactyly with post-axial cutaneous digital buds.
Finally, the paternal aunt has a boy who was operated on for bilateral cryptorchidism and has good psychomotor development at the age of four.
Personal history:
Pregnancy followed in Nantes, marked by the discovery of post-axial hexadactyly in all four limbs, with ossification of the supernumerary fingers. The SNP-Array performed on amniotic fluid returned normal.
Amédée was born at 41 GA with normal measurements: BW 3940 g (87th percentile), BL 50.5 cm (56th percentile), HC 36 cm (85th percentile). PEA +/+.
Birth was marked by respiratory distress requiring ventilatory support with oxygen glasses for 3 days. Notable axial and peripheral hypotonia during the neonatal period, with ETF and EEG showing no particularities.
Her hexadactyly was operated on in all four limbs at the Rennes University Hospital in August 2019.
Regarding her psychomotor development:
Amédée walked at 20 months, pronounced her first words at 22 months ("mama" in a directed manner), and the parents mention recent progress: since the age of 2, she repeats words she hears and has about thirty words in her vocabulary without associating them for the moment. Proto-imperative and proto-declarative pointing are well acquired. She shows good understanding of simple instructions.
Moreover, her diet is varied and balanced, with no oral issues. Her sleep is also of good quality.
On clinical examination today:
Amédée is 2 years and 9 months old, weighs 10 kg (1st p), measures 82 cm (-3 DS), and has a HC of 47 cm (-1 DS). She is smiling, communicative, and allows for easy examination. The osteotendinous and cutaneous-plantar reflexes are normal. There are no oculomotor disorders or signs of ataxia. Note a slight distal hyperlaxity. Morphologically, she presents slightly low-set ears and posteriorly rotated, a marked nasal saddle, left ptosis, and a somewhat hollow palate. The spinal static seems normal. Furthermore, the abdomen is soft, depressible, and painless. Heart sounds are regular without murmurs.
In total:
Amédée is a 2-year and 9-month-old girl presenting the association of unexplained postnatal staturoponderal retardation, with post-axial hexadactyly in all four limbs as well as a slight delay in psychomotor acquisitions. A first genetic analysis by SNP-Array performed during the prenatal period did not find any chromosomal microremodeling explaining this association of symptoms.
We propose to complete the assessment by performing a systematic abdominal ultrasound to not overlook any renal morphology anomalies, and we continue today the genetic explorations by performing an exome in trio. The results of this study may take several months, and we will not fail to contact the family for the results. We remain at your disposal for any additional information.
Best regards,