Child 14 months old, Master Sunder, was brought
to me for delayed development.
The main complaints were of poor weight gain [5.5 kg]. Mentadevelopment
was very slow and there was no teething / talking.
When I saw the patient for the first time, he looked like a
baby monkey. His face, expressions and movements were like that
of a smalbaby monkey. He had plenty of hair alover his body
+10. He had bushy eyebrows, long eyelashes, a smalnose and thin
drawn up legs - features evident of Hirsutism ++.
Life situation:
The child’s mother had a lot of tensions and worries during
the pregnancy of this child. The reason being that the mother
came from a community where a girhas to be given a heavy dowry,
and so the mother of this child wanted a male child. She would
always be worried whether she would get a boy or gir. Her sleep
was disturbed 3+ and she had severe complaints of acidity 3+
and vomiting 3+ during this period. She would often get up worried
at night and would dream that someone was harming her. She felt
neglected during pregnancy as there was not much of co-operation
from her husband.
(In the past, she had got an amniocentesis done
and went in for an abortion as it was a female child)
Personahistory :
Appetite - Less
Craving - Sweets +3
Aversion - NiBowe- Constipated, passes stooevery alternate day.
Feels better after burping; otherwise vomits.
Sweat - +++ fan is must, likes air conditioning
Urine - NiSleep - Gets up with a startle; when patted goes back
to sleep.
Thermamodality - Hot
Bath - Tepid
Cover - Aversion
Weather - Comfortable in winter
Past history :
Birth weight 2.2 Kg.
P/H/O. Bronchitis, cold, cough, constipation frequently
Cleft palate - operated 3 months back.
Tongue tie - operated
Family history :
Mother - Cold++
MGF - Diabetes
Clinicaexamination:
O/E Flat head, fontanelles open
Hair +10- face, back and alover body, Eyebrows bushy
Hirsutism
Undescended testes ++ bilateral
Diagnosis of this syndrome in the case of Sunder
was based on following criteria :
1. Low birth weight
2. Faciafeatures – like that of monkey, smalhead, hair
growth, eye brows bushy etc.
3. Hirsutism
4. Undescended testicles
5. Congenitaanomalies – cleft lip and palate
6. Language delay
7. Growth retardation, no teething, etc.
8. Behaviouraproblems
9. Poor sleep and appetite
10. Mentaretardation
Diagnosis:
CongenitaAnomalies, Microcephaly. Cornelia De Lange Syndrome.
