Dear colleague,  
I met with the child Khalid ELDARKHANOV, born on 15/09/2022, for a new genetic evaluation in the context of a malformative syndrome detected during the prenatal period.  
The birth occurred at 36 GA, via cesarean section, due to maternal pre-eclampsia.  
The adaptation to extrauterine life went well with an Apgar score of 9 and 10. The measurements were 2.7 kg (51st p) for a height of 46 cm (28th p), and a head circumference of 33.8 cm (65th p). Notably, there was moderate jaundice without the need for treatment and some transient feeding difficulties.  
In summary, the malformative elements identified are as follows:  
- Multicystic dysplasia of the left kidney associated with compensatory hypertrophy of the right kidney and normal renal function.  
- A curvature of the penis related to a shortening of the ventral side of the penis with minimal hypospadias.  
- A slight heart murmur with a small muscular ventricular septal defect noted on ultrasound.  
- Segmentation anomalies with hemivertebrae at T6 and T7 and a supernumerary rib.  
Since leaving the maternity ward, the evolution has been generally satisfactory in terms of growth and psychomotor development.  
At the examination today (4 months), I note a baby with good contact and eye tracking, numerous smiles, appropriate responses, and cooing. The neurological schema is rather in extension with a child who does not grab his feet and does not put them in his mouth. Head control is acquired and stable. The axial and peripheral tone appears appropriate.  
Morphologically, we note somewhat short upper limbs. The skull is very brachycephalic with plagiocephaly. On the abdomen: a supernumerary nipple on the right. Finally, we note a somewhat marked sacral dimple.  
Weight is 5.450 kg for a height of 60 cm and a head circumference of 40 cm, indicating a harmonious growth curve at the lower limit.  
Furthermore, I recall that the CMA performed during the prenatal period did not reveal any chromosomal imbalance, including small size.  
We discussed the main hypothesis of an association of the VACTERL type for which the neurodevelopmental prognosis is generally good. There is currently no recognized genetic marker typically associated.  
In summary, I propose to the mother:  
- A spinal ultrasound in the context of these malformative vertebral elements, if possible at this age.  
- Bone X-rays around the age of one year.  
- Continue physiotherapy sessions to promote flexion motor skills and combat plagiocephaly.  
- Reassess the genetic situation at the beginning of next year.  
In the meantime, please keep me informed of his progress and best regards.