Hydronephrosis in Schinzel-Giedion syndrome: an important clue for the diagnosis

Abstract

Schinzel-Giedion syndrome is a rare autosomal recessive disorder characterized by coarse facies, midface retraction, hypertrichosis, multiple skeletal anomalies, and cardiac and renal malformations. Craniofacial abnormalities of this syndrome sometimes resemble a storage or metabolic disease. The pathogenesis of the disease remains unknown. The objective of this report was to emphasize the importance of congenital bilateral hydronephrosis for the diagnosis of Schinzel-Giedion syndrome. We describe the first Brazilian case of a newborn with typical facies, generalized hypertrichosis, cardiac and skeletal anomalies, and bilateral hydronephrosis detected during pregnancy and confirmed later by abdominal ultrasonography. Chromosomal constitution was normal. Of the 35 cases already reported in the literature, 31 presented hydronephrosis, which is considered an important clue in diagnosis. If Schinzel-Giedion syndrome were indexed as a cause of congenital hydronephrosis, its identification would be greatly facilitated, since the majority of the other findings in Schinzel-Giedion syndrome are nonspecific and common to many genetic syndromes.

Scoliosis in a Case of Schinzel–Giedion Syndrome

“…A decision was taken not to perform surgery because of the poor medical condition of the patient. Discussion SGS is a rare syndrome characterized by various phenotypic features with no known genetic or biochemical abnormality [1][2][3][4][5][6][7][8][9][10][11][12][13][14]. Typical phenotypic abnormalities together with the skeletal and renal imaging and absence of metabolic and genetic abnormalities were the basis of diagnosis of SGS in our patient.…”

“…No spine abnormality was noted at birth. Ultrasound of the abdomen revealed bilateral hydronephrosis with mild dilatation of both pevicalyceal systems, which is a characteristic feature of the syndrome [2]. There Each author certifies that he or she has no commercial associations (e.g., consultancies, stock ownership, equity interest, patent/licensing arrangements, etc.)…”

“…Multiple skeletal abnormalities have been described including abnormality of the small bones of the hand, thick cortex of the long bones, broad ribs, and bowed tibia and fibula [1][2][3][6][7][8][9][10][11]. There is no report of scoliosis in a case of SGS.…”

Prenatally detected ureteropelvic junction obstruction: clinical features and associated urologic abnormalities

“…Only 36 cases have been reported to date [37][38][39]. Common features include normal intrauterine growth and gestation with severe intellectual disability and low physical growth after birth, coarse facial appearance with midfacial hypoplasia, abnormal auricles and deep groves under eyes.…”

“…Since it is an occasional associated feature of other multiple malformation syndromes such as Johansson-Blizzard syndrome, trisomy 13 and 18, Turner syndrome, triploidy and Ochoa syndrome, hydronephrosis and genital abnormalities in a malformed child should alert pediatric urologists to the possible diagnosis of SGS [39]. Given the short life-expectancy of these patients, observation is appropriate as the primary management.…”