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Excessive fetal sizeFrom: O'Grady, Patrick MD (Patrick.OGrady@bhs.org)Sat Dec 30 07:22:38 2000
Apparent excessive fetal size at an inappropriate period of gestation may have several explainations: i. incorrect dates (perhaps not the case here) ii. an intrinsic fetal condition resulting in large size: all of these are\ rare, the most common among these is probably the Beckwith- \ Wiedemann syndrome. This was indirectly questioned in one of the prior comments when the question of a large tongue was raised. Most BW infants do have macroglossia, with the mouth open most of the time and the tongue protruding. An easy way to establish the diagnosis is to scan the abdomen as the kidneys are commonly remarkably large--generalized organomegaly is the hallmark of this condition. Other problems may or may not be present: omphalocele, cardiac anomalies and adrenal hyperplasia If this disorder is suspected, consultation is needed: a chromosomal marker exists for at least some cases (11p15) and there are specific neonatal risks if this condition actually is present. There are other very, very rare congential syndromes that can also result in an infant "giant" these include: Marshall-Smith S. Simpson-Golabi-Behmel S., Sotos S. and Weaver S. among others. Some of these could be diagnosed by an astute ultrasonographer, others not. All are vanishingly rare, but possible. iii. a maternal condition contributing to large size: the most common is diabetes mellitus. Other, less common conditions could lead to a "large infant" such as hydrops fetalis from any cause such as congenital hypothyroidism, isoimmunization, etc. but this is an easy diagnosis and rapidly established and would not escape your ultrasonographers, regardless of their level of expertise. iv. error. Not knowing the patient's last name, I hazard a guess that unless it is unusual, the ultrasonography service has multiple cases of individuals with quite similar or exactly similar names: I know we do. Please be certain that you have received the correct report. When things don't add up, this might be the answer. In sum, I would consider the simpler diagnoses and, if you have good evidence for unusual fetal growth, refer this case to a center with extensive diagnostic experience. You may have one of the rare ones. Good luck ! J P O'Grady MD Baystate Med Ctr. Springfield, Ma
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