Dear Curofians please highlight on the case posted below. A 36 yrs old pt staying in Africa got 1st child with bony deformities of both Lower limbs(knees & ankles) Rh + No h/o any fever or drugs during pregnancy.

6 Likes

LikeAnswersShare
Dx Bow legs or genu varum Dd 1.Rickets- Familial.VitD defi.Hypophosphatemic rickets 2.Blounts disease 3.Skeletal dysplasia-Achondroplasia.Multiple epiphyseal dysplasia Detailed physical examination including anthropometry to be done Investigations skeletal survey VIT D. CA. PHOSP.ALP levels After these can think of genetic opinion.
Bow legs. 1. Check for ankle widening. 2. Do x Ray of the ankle. See for cupping, splaying, fraying. 3. Check his vitamin d, ALP, PTH levels. 4. In achondroplasia RHIZOMELIC shortening ll be there such that his hands can't reach his buttock. I don't think this kid have that. 5. Any how stil other skeletal dysplasia s possible. 6. KARYOTYPING doesn't have any role in achondroplasia. I have to confirm with FGFR3 mutational analysis.
Bow legs start every disease with simplest one then to rare cases
1

View 1 other reply

Hi.pt is need tibia osteotomy surgery. In our hmh hospital Hyderabad. Dr. Sandip pedeatriatric orthopedic surgeon is done. Deformity is fully corrected
LATE PREGNANCY IS ITSELF IS THE CAUSE..* YOU DON'T WANT TO SHOW FACE...Cover eyes for privacy...My Dx is ACHONDROPLASIA
Suggest murmaid splint and daily physio thetapy treatment should be give.
Case of Achondroplasia , a Autosomal Dominant. Needs Genetic evaluation.
I think if it was achondroplasia one of the parents would also have it.
0
Will Karyotyping will suffice if she plans for next pregnancy?
Yes Madem karyotyping of both is required.
0
Bow legs due to deficiency of vitamin D.
agree with Dr Sree Harsha
First look Its Case of genu valgum. Agree with all above answer preferably rickects. Examine chest: particular features are rickesia rosery and pegion chest. Ma'am what I like to point as public health dentist is what abt the dental status? ( Going totally on different aspect). Examine for teeth are there any stains Fluorosis? Such C/F seen in case of skeletal Fluorosis. Why I correlating this is because history says her mother is from Africa and in some part of Africa the fluoride content is very high which may b reason.
Load more answers