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Biomedical subjects

W H Persutte

Publications and source records attributed to W H Persutte.

29 records · Page 2Linked to original sources

Agnathia malformation complex associated with a cystic distention of the oral cavity and hydranencepahly.

A fetus with a severe variant of the agnathia malformation complex (AMC) was delivered following prenatal diagnostic evaluation with ultrasonography. The constellation of anomalies that accompanied the agnathia included holoprosencephaly, hydranencephaly, situs inversus, and polysplenia. Recently, several authors have reported the association between the agnathia, holoprosencephaly, and situs inversus. We present evidence which suggests that, when hydranencephaly is also present, this may represent the most severe variant of the AMC. Our case is presented, the literature is reviewed, and a hypothesis regarding the embryopathologic mechanism is discussed.

Abnormalities, Multiple↗

In utero diagnosis of benign fetal macrocephaly.

Benign familial macrocephaly is an autosomal dominant disorder associated with a large absolute circumference of the head. In this disorder serial growth demonstrates a proportional rather than an excessive rate of growth. To date, we are not aware of any published case reports that confirm the diagnosis prenatally. We report a case of benign familial macrocephaly diagnosed in utero by ultrasonographic evaluation. This case report points out the necessity of combining appropriate family history and physical examination in cases of prenatally detected anomalies.

Adult↗

Maternal urinary bladder filling for middle and late trimester ultrasound. Is it really necessary?

A retrospective study was conducted to determine if there was a correlation between maternal urinary bladder filling and the ability to obtain fetal measurements. The ultrasonographic examinations of 400 randomly selected second and third trimester patients were evaluated. The patients examined either had a full bladder or an empty bladder. Although all patients were considered to have adequate examinations, 91.5% of those with a full bladder and 93% of those with an empty bladder had complete (four parameter) biometric evaluations. No statistical correlation was found between maternal bladder size and the ability to obtain fetal measurements.

Female↗

Antenatal diagnosis of Pena-Shokeir syndrome (type I) with ultrasonography and magnetic resonance imaging.

A case of Pena-Shokeir syndrome type I was diagnosed prenatally with ultrasonography and magnetic resonance imaging (MRI) in a woman with a possible previous occurrence. Initial ultrasonographic examination at 18.5 weeks' gestation demonstrated an unusual appearance of the fetal spine in an otherwise unremarkable fetus. However, subsequent sonographic examinations at 26 and 28.5 weeks demonstrated polyhydramnios and multiple skeletal, brain, and facial abnormalities. Magnetic resonance imaging, performed to further evaluate the fetal brain, confirmed the sonographic findings. However, MRI was not useful in further differentiating the diagnosis. A 1024-g, premature male fetus was delivered at 30 weeks' gestation and died within 30 minutes of delivery. The fetus had multiple congenital anomalies consistent with Pena-Shokeir syndrome type I.

Abnormalities, Multiple↗