Congenital absence of the external genitals

Urorectal septum malformation sequence: Report of thirteen additional cases and review of the literature

“…Using the criteria of absence of perineal and anal openings, we reviewed the literature and found 49 cases that met our criteria for the URSM sequence (Table II) [Major, 1929;Meyer, 1941;Kirshbaum, 1950;Currarino, 1970;Rabinowitz et al, 1971;Fitch and Artinian, 1973;Baden et al, 1974;Sofatzis, et al, 1983;Robinson and Tross, 1984;Wenstrup and Pagon, 1985;Gardner and Nelson, 1986;Lande and Hamilton, 1986;Escobar et al, 1987;Lage et al, 1987;Gilbert et al, 1990;Lin, 1991;Currarino and Weinberg, 1991;Fryd- , 1993;Pauli, 1994;Parida et al, 1995]. A common anomaly in most of the cases reviewed in the literature was ambiguous genitalia.…”

“…The URSM sequence, for the most part, is a lethal one with death occurring due to pulmonary insufficiency and occasionally from renal failure. Many of the cases were stillborn or had elective pregnancy termination [Pauli, 1994;our cases 1, 5, 6, 7, 10, 11, 12, and 13], while those born alive typically died within a few hours to a few days of life [Major, 1929;Kirshbaum, 1950;Currarino and Weinberg, 1991;Fitch and Artinian, 1973;Baden et al, 1974]. Only 3 of 62 patients had long-term survival [Escobar et al, 1987].…”

Family Law, Parents with Disabilities, and the Americans with Disabilities Act

“…Delays in obtaining readers led to missed appointments and court dates, for which he was blamed." 137 Moreover, "[e]ven when parents request accommodations in advance, if they have cognitive or severe information-processing issues they often are not provided with advocates or translators so that they can understand the family court process. For example, a father with severe dyslexia, trying to represent himself, was denied both adaptations and interpreters."…”

Gonadal Hormones and Sexual Differentiation of Human Brain and Behavior

“…The causes of the condition are unknown, although it is usually associated with abnormalities of the urinary and gastrointestinal tracts (Farah and Reno, 1972;Kirshbaum, 1950). Estimates of its incidence range from 1 in 50 000 (Young et al, 1971) to 1 in 10-30 million (Kessler and McLaughlin, 1973), and mortality is high.…”