Yunis Varon Syndrome is a fatal genetic disorder therefore the prognosis of this autosomal recessive disorder is quite poor. In brief, the chances to survive are bare minimum. Subsequently after birth neonates require artificial ventilation. The under-development of body systems coupled with dysmorphic abnormalities makes it very difficult to sustain the respiratory complications. Patients of this rare genetic disorder can’t live more than 1 year.
Here is the first case of Yunis Varon Syndrome in Pakistan.
In Lahore, Pakistan a healthy 28 years old woman delivered a baby girl at 39 weeks of gestation by Lower Segment Caesarean Section. The Apgar score of baby were 5 and 7 at minute one and minute five respectively. As a rule of Apgar Scoring System, a score of 7,8 and 9 is normal. The couple had history of two male childbirths. They also had dysmorphic features similar to the baby girl. Both male babies died at the age of 1 months and 3 months. In particular, both husband and wife were first cousins.
In this case, the child had severe growth retardation. She weighed only 2.5 kg. The normal weight of female after birth is 3.4 kg. Her fronto-occipital circumference was 27.5 cm. The normal circumference is 35 to 38 cm. Furthermore,the fronto-occipital length of child was 39.5 cm. The normal length is 11.5 cm.
The dysmorhic features of child included:
– microcephaly
– wide open anterior and posterior fontanelle with diastasis of sutures
– complete lip cleft
– complete palate cleft
– sparse scalp hair
– absent eyebrows
– absent eyelashes
– hypertelorism i.e. large distance between eyes
– low set malformed ears
– thin lower lip
– anteverted nares i.e. inclined forward
Abnormal findings in skeletal system of child are as follows:
- Bilateral absence of clavicles
- Winging of scapulae
- Agenesis of thumbs and big toes i.e. failure to develop
- Syncdactyly i.e. complete or partial union of fingers and toes
- Hypoplasia of distal phalanges of fingers
- Hypoplastic nails
- Bilateral developmental dysplasia of hip joint i.e. abnormal growth of hip bone tissue
Radiological Findings
X-Ray revealed;
- Absent clavicles
- Bilateral hip dislocation
- Bilateral healing fractures of femur
- Agenesis of thumbs
Ultrasound revealed;
- Dilatation of all ventricles in cranium with a large cyst in posterior fossa
- Hypoplastic vermis
- Fourth ventricle also connected with posterior fossa.
The ultrasound findings suggested Dandy-Walker malformation.
Sonography revealed;
- Normal spleen, liver and kidney
Echocardiogram revealed;
- Biventricular hypertrophy with normal left ventricular function
- Ejection fraction of 60%
Lastly, the baby was stable under oxygen support via nasal prongs and feeding was only possible via nasogastric tube.
Diagnosis
Physical examination and radiological results finally diagnosed the child with Yunis Varon Syndrome. In this fatal syndrome, also called cleidocranial dysplasia with micrognathia or absent thumbs and distal aphalangia, skeletal system, endocrine system and cardiorespiratory system are the most notable systems which experience under-development. Generally, only 25 cases of this multisystem congenital disorder have been reported globally.
In this case, the child expired on ninth day of life due to respiratory distress.
Survival rate
Particularly speaking, to this date only 5 neonates have been reported to survive. However, they had severe mental retardation, growth retardation and hearing abnormalities.
