Would like to share an interesting and rare case that I encountered. This baby was term/AGA born with multiple skeletal defects. Consanguinity +. 2/4 prior siblings also affected. Identify this skeletal dysplasia.



fuhrmann syndrome?? bcos autosomal recessive condition with bowing of femur, hypoplasia of fibula, poly/syn/oligodactyly, absence of metatarsals, coalescence of metatarsals

Excellent question Dr Pruthvi. Both Fuhrmann as well as AARRS are caused by the mutation in the same gene I.e. WNT7A. mutation in Fuhrmann is partial while in AARRS is of null type. Clinical differentiation is made between the 2 on the basis of hypoplastic scrotum, micropenis, bilateral cryptorchidism, facial dysmorphology n malformation of kidney and heart which are unusual in fuhrmann. In our baby there was presence of micropenis, cryptorchidism n hypoplastic scrotum.

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Al Awadi Raas Rothschild syndrome.Xr shows absent or underdeveloped pelvic bones..Missing fingers phocomelia undescended testis r seen.

Thonatophoric dwarfism..previously often associated with Thalidomide usage during Pregnancy...Otherwise used to be called Phomelia...a variant juane syndrome.. I am not aware of familial or Genetic role.

osteogenesis imperfecta

not at all....there are no fractures....

Great inputs everyone! This is Al Awadi Raas Rothschild Syndrome.

good... what's the finding in that xray shown....

Thanatophoric Dwarfism. AD 2 types, lethal to life.

no skull or thoracic deformity....primarily limb anomalies....good try though....

desbuquois dysplasia??

no joint dislocations no hypotonia no significant facial dysmorphism....hence its not desbuquois dysplasia....

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Rhizomelic Chondromalacia.

u mean rhizomelic chondrodysplasia punctata?? certainly not

interesting. haven't seen or read this before

short stumpy fingers may be Achondroplasiconfidential anomaly and xray shows bil cdh.

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