Discussion in 'Spot Diagnosis' started by Egyptian Doctor, Jan 2, 2013.
What is your medical diagnosis for this case ?
Thalidomide had become infamous as a morning sickness drug, becos of it's association with phecomelia.
If the deformity was limited to upper extremity, Holt - Oram and TAR syndrome ( Thrombocytopenia Absent Radius Syndrome ), would have been in my differentials.
These days most common causes seem to be sporadic.
If any body can list the etiologies for phecomelia, it will be nice.
Newborn with multiple fractures (this picture shows that both tibias and both humeri are broken) ---> osteogenesis imperfecta in my opinion.
Answer : Phocomelia
Related self assesment question
Patients with genetic disorders or those affected by specific teratogens in utero, typically have certain characteristic dysmorphic features. Match this physical description with the genetic or teratogenic abnormality: a newborn has low sloping shoulders, right hand attached at elbow with agenesis of the forearm, cardiac abnormalities, missing chest wall musculature, and a bifid thumb.[/FONT]
[FONT="]A. Trisomy 21 (Down syndrome)[/FONT]
[FONT="]B. Trisomy 18 (Edwards syndrome)[/FONT]
[FONT="]C. Holt-Oram syndrome[/FONT]
[FONT="]D. Diabetic embryopathy[/FONT]
[FONT="]E. Fetal alcohol syndrome[/FONT]
[FONT="]F. Turner syndrome[/FONT]
[FONT="]G. Ehlers-Danlos syndrome[/FONT]
[FONT="]Ehlers-Danlos syndrome[/FONT][FONT="] is characterized by thin fragile skin, easy bruising, and joint hypermobility. Mitral valve prolapse has been reported. There are several different variants. One of these variants, the vascular form (type 3), can result in rupture of the aorta.[/FONT]
[FONT="]Trisomy 21, also known as Down syndrome,[/FONT][FONT="] is easily recognized in older children and adults, but may be more difficult to diagnose in infancy. Characteristics include upslanting palpebral fissures with epicanthal folds, hypotonia, small ears, and a single transverse palmar crease. About half of patients with Down syndrome will have [/FONT] [FONT="]some type of cardiac abnormality.[/FONT]
[FONT="]Holt-Oram syndrome[/FONT][FONT="] is characterized by abnormalities in the upper extremities, hypoplastic radii, thumb abnormalities, and cardiac anomalies. Occasionally the pectoralis major muscle is missing in Holt-Oram, and as such it needs to be considered when discussing Poland syndrome.[/FONT]
[FONT="]Mothers who consume alcohol during pregnancy put their infant at risk of fetal alcohol syndrome. Key features include growth retardation, short palpebral features, short nose, thin upper lip, mental retardation, heart defects, and behavioral abnormalities.[/FONT]
[FONT="]Turner syndrome (XO)[/FONT][FONT="] is characterized by short stature, low ears, a wide chest with widely spaced nipples, broad based neck, low hairline, extremity edema, and congenital heart defects (typically coarctation or bicuspid aortic valve). Intelligence is normal.[/FONT]
[FONT="]Trisomy 18 (Edwards syndrome)[/FONT][FONT="] babies are small with low-set ears, a prominent occiput, a short sternum, a closed hand with overlapping fingers, cardiac defects, rocker-bottom (rounded) feet, cleft lip and/or palate, and renal and genital abnormalities. Mortality is 50% in the first week and 90% in the first year.[/FONT]
[FONT="]Infants born to diabetic mothers[/FONT][FONT="] are frequently macrosomic and may become hypoglycemic. However, they can have many other problems as well, including cardiac septal hypertrophy, congenital heart disease, caudal regression, vertebral defects, and a single umbilical artery.
[FONT="]The answer is C.[/FONT]
A 9-month old male infant presents to the orthopedic clinic with the defects shown below. The mother reports having been in excellent health and not taking any medication at any point during her pregnancy, and she similarly denies alcohol and tobacco use either before or during her pregnancy. However, she does mention that she has a cousin and a great aunt who had upper limb defects.
Based on the history, you strongly suspect that this family most likely harbors a mutation that results in the loss or disruption of what class of genes?
HEDGEHOG genes (e.g. SHH)
HOX genes (e.g. HOXA10)
FGF genes (e.g. FGF8)
BMP genes (e.g. BMP4)
B. loss of disruption of HOX genes can result in the loss of certain limb elements -- in this case, the radius, ulna and most of the humerus.
Moral of the story - phocomelia can be due to exposure to teratogenic drugs, sporadic or due to inherited mutations.
Separate names with a comma.