[The Potter syndrome. Clinical and anatomo-pathological aspects and etiopathogenetic considerations].
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Biomedical subjects
Publications and source records attributed to C Fabris.
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A child with cleft palate is described who was born to a mother who received corticosteroid therapy early in pregnancy. The relationship between the cleft palate and the dose and timing of the corticosteroid therapy is discussed.
A newborn girl with multiple anomalies had an interstitial deletion of the long arm of chromosome 7 (46, XX,der(7)mat). The patient's mother and maternal grandmother were carriers of a balanced translocation, 46,XX, inv ins(5;7)(q14;q3200q2200). Both cytogenetic and clinical findings were similar to those in the two cases already described.
A nine day old boy who had the Pierre Robin syndrome also had an unusual associated hand malformation consisting of bilateral clinodactyly of the index finger. A supernumerary phalanx was inserted between the second metacarpal and the proximal phalanx of both index fingers with a radial deviation of the same phalanx. The same hand malformation has been previously described in three patients who had either the Pierre Robin syndrome or isolated cleft palate. On the basis of ours and the three previous cases, the existence of a new palato-digital syndrome is suggested.
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