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2005: Gonzales Marie; Verloes Alain; Saint Frison Marie-Hélène; Perrotez Chantal; Bourdet Odile; Encha-Razavi Ferechte; Joyé Nicole; Taillemite Jean-Louis; Walbaum Roland; Pfeiffer Rudolf; Maroteaux Pierre
Diaphanospondylodysostosis (DSD): confirmation of a recessive disorder with abnormal vertebral ossification and nephroblastomatosis.
American journal of medical genetics. Part A 2005;136A(4):373-6.
We report on four patients from three families, with similar radiological findings: absent (or severely delayed) ossification of vertebral bodies and associated anomalies. The babies were stillborn or died soon after birth of respiratory insufficiency. Two patients are sibs (female and male) born to first cousin Malian parents. The two others were non-consanguineous. This perinatally lethal entity comprises short neck, short wide thorax, and normally shaped limbs. Associated, inconstant anomalies are myelomeningocele, cystic kidneys with nephrogenic rests (in the sibs), and cleft palate. Radiologically, the hallmarks are absence of ossification of the vertebral bodies and sacrum, abnormal position of the vertebral pedicles, which are lamellar and angulated, ribbon-like ribs reduced in number, narrow pelvis, upward widening of the iliac wings, and unusual tilt of the ischiopubic rami, contrasting with the normal appendicular skeleton. Maroteaux briefly described one of the patients in the 2002 edition of "Maladies osseuses de l'enfant" and three sibs with similar renal and radiological findings were reported in 2003 in this Journal. Combined with the latter cases, these four new patients allow delineation of a specific lethal AR syndrome with ossification defect of the axial skeleton and renal dysplasia. We propose to name this entity diaphanospondylodysostosis.

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