Do you agree with Achondroplasia? Two other siblings of same family with some picture and passed shortly after delivery.


It seems to be a case of PHOCOMELIA symptoms of phocomelia syndrome are undeveloped limbs and absent pelvic bones; however, various abnormalities can occur to the limbs and bones. Usually the upper limbs are not fully formed and sections of the "hands and arms may be missing." Short arm bones, fused fingers, and missing thumbs will often occur. Legs and feet are also affected similarly to the arms and hands. Individuals with phocomelia will often lack thigh bones, and the hands or feet may be abnormally small or appear as stumps due to their close "attachment to the body."[3]According to NORD, individuals carrying phocomelia syndrome will generally show symptoms of growth retardation previous to and after birth. The syndrome can also cause severe mental deficiencies in infants. Infants born with phocomelia will normally have a petite head with "sparse hair" that may appear "silvery-blonde." Hemangioma, the abnormal buildup of blood vessels, will possibly develop around the facial area at birth and the eyes may be set widely apart, a condition known as orbital hypertelorism. The pigment of the eyes will be a bluish white.[3]Phocomelia can also cause: an undeveloped nose with slender nostrils, disfigured ears, irregularly petite jaws [also known as micrognathia], and a cleft lip with cleft palate. According to NORD, severe symptoms of phocomelia include: A fissure of the skull and a projecting brain known as (encephalocele)An accumulation of spinal fluid under the skull also known as hydrocephalus; causing vomiting and migrainesAn abnormally shaped uterus (bicornuate)Inability to clot blood efficiently due to a low amount of platelets running through the bloodMalformations in the kidney and heartShortened neckAbnormalities in the urethra
Thank you very much.
This looks like Thanatophoric dwarfism The thorax looks very small and underlying lung hypoplasia must be responsible for the demise. Do we have any xray ?
No XR . the case passed away in less then one hour.
Achondroplasia generally is sporadic in 80% of cases and it is very unusual to find a family history but if it is homozygous it can be lethal and may have positive family history
All skeletal dysplasia needs a x ray for diagnosis. Looks more like thanatotrophic skeletal dysplasia
Its Achondroplasia, R/o any associated syndrome/anomaly as well
I'm not sure but I think it's a case of phocomelia syndrome
Asphyxiating Thanatotropic Dysplasia
Yes it looks to be that but don't you think the presence of previous two other siblings in the same family is against it because the mode of inheritance
I am agreeDr. Raghvendra Rao
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