A rare association: Sirenomelia with adrenalomegaly in an infant of diabetic mother

Abstract

Sirenomelia or the Mermaid syndrome is a rare congenital anomaly with an incidence of one in 60,000 to 70,000 pregnancies. Sirenomelia is characterized by complete fusion of the lower limbs, commonly associated with renal agenesis, absent external genitalia and other gastrointestinal defects. A 37-week, 3040-g infant was born to a 35-year-old multigravida mother with type 2 diabetes mellitus and hyperlipidemia. To our knowledge, this is the first case of sirenomelia with adrenalomegaly.

Sirenomelia (mermaid syndrome): a case report

“…In the literature, adrenomegaly has been detected in the case of a baby with a diabetic mother (15). In the present case, there were sunken nasal bridge, fallen ears, cleft palate, and cleft lip.…”

“…Sirenomelia is a rare congenital malformation, which is seen in approx. 1/60,000-1,000,000 deliveries (1)(2)(3)(4)(5)(6)(7)(8)(9)(10)(11)(12)(13)(14)(15)(16)(17)(18)(19). The number of cases reported to date is approx.…”

“…The other anomalies that might be seen in sirenomelia include sacral agenesis, absence of gallbladder and spleen, omphalocele, lordosis, malformed vertebra-hemivertebra, and central nervous system (CNS) anomalies, as well as less frequently observed ones such as cleft palate, upper thoracic and cervical vertebra anomalies, pulmonary hypoplasia, and cardiac anomalies ( 1 , 6–8 , 12 , 13 , 16–19 ). In the literature, adrenomegaly has been detected in the case of a baby with a diabetic mother ( 15 ). In the present case, there were sunken nasal bridge, fallen ears, cleft palate, and cleft lip.…”

Exome sequencing identifies the first genetic determinants of sirenomelia in humans

“…No environmental factor has yet been clearly identified, besides the observation that the rate of sirenomelia is much higher in mono or bi‐chorionic twin pregnancies usually with one affected and one non‐affected fetus (Di Lorenzo, Brandt, & Veilleux, 1991). Some reports found an association with maternal hyperglycemia (Castori et al, 2010; Lynch & Wright, 1997; Ozturk et al, 2014) although the vast majority of cases occur in absence of any maternal/gestational diabetes (Duesterhoeft, Ernst, Siebert, & Kapur, 2007; Gerard et al, 2012; Orioli et al, 2011; Seidahmed et al, 2014; Thottungal, Charles, Dickinson, & Bower, 2010). Sirenomelia generally occurs sporadically, with very few familial aggregations reported.…”