An infant girl of 36 weeks gestational age was found to have cardiovascular and other lethal internal anomalies in addition to characteristic external abnormalities of focal dermal hypoplasia (Goltz syndrome). The internal anomalies included truncus arteriosus type II with truncal origin of hypoplastic pulmonary arteries, cardiac ventricular septal defect, severe hypoplasia of lungs and pulmonary veins, massive diaphragmatic hernia, and absence of the right kidney. Such a combination of severe anomalies has not been reported previously in Goltz syndrome.
"Kidneys and urinary system. Severe symptoms such as absent kidney were reported by (Reddy and Laufer, 2009) and (Han et al, 2000). Structural defects including hypoplastic kidneys, renal ectopia, horseshoe kidney, renal pelvis dilatation, and bifid ureter could occur. "
[Show abstract][Hide abstract] ABSTRACT: Focal dermal hypoplasia (FDH), or Goltz-Gorlin syndrome, is a rare syndrome and may result in multisystem disorders. Several reviews of FDH have been published. However, the last comprehensive review of this disorder appeared more than 20 years ago. To date, a number of new clinical manifestations have been reported and considerable knowledge has accumulated regarding etiology and pathogenetic mechanisms. The purpose of this review is to gather these more recent data and to provide organized and reliable information. So we reviewed 159 cases of FDH that had been reported from 1990 to 2012, summarized the new discoveries, and suggested a potential standard for the diagnosis of FDH. We also reported on a Chinese girl with FDH, who was clinically and histologically in accord with FDH, as an example.
[Show abstract][Hide abstract] ABSTRACT: Objective: to describe the particularities of a case of Goltz-Gorlin Syndrome. Description: a girl, three years and four months of age, was referred for physiotherapy. The clinical findings of bone agenesis, asymmetry in the lower members, syndactylia, cleft lip, malformed ears, facial asymmetry, hyperpigmentation of the skin, functional limita- tion and delayed neuro-psychomotor development pointed to the diagnosis of Goltz-Gorlin Syndrome. Clinical and physiotherapeutic evaluation showed neuromotor and neurosensorial deficiencies and musculoskeletal abnormalities that limited the development. The child was attended by physiotherapists for four months, with motor improvement. Conclusions: patients with Goltz-Gorlin Syndrome usually present neuro-motor and neuro-sensorial impairment. Considering the child's favorable motor evolution we suggest early evaluation and multidisciplinary attendance, in addition to physiotherapy.
[Show abstract][Hide abstract] ABSTRACT: We describe a girl who was diagnosed with split foot-split hand anomaly prenatally, in whom at birth the diagnosis of Van Allen-Myhre syndrome was made, and who at 8 months of age was recognized to have Goltz syndrome. Based on the evolution of clinical features in this infant, we suggest that our case, as well as that reported by Van Allen and Myhre, is an example of unusually severe Goltz syndrome.
American Journal of Medical Genetics 07/2002; 110(4):370-9. DOI:10.1002/ajmg.10456 · 3.23 Impact Factor
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