We report on a Brazilian girl born to consanguineous parents and presenting with craniosynostosis, telecanthus, blepharophimosis, blepharoptosis, epicanthus inversus, cleft lip and palate, skeletal defects, and hearing loss. This combination of anomalies appears to constitute the Michels syndrome. (C) 1995 Wiley-Liss, Inc
We report on a mother and son affected with an unusual skeletal dysplasia and anterior segment eye a...
In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital ano...
Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and fo...
We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies...
We report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognat...
We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and men...
We report on a Brazilian boy, born to normal and nonconsanguineous parents and presenting facial asy...
We report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognat...
Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate...
Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies...
A 13-year-old boy and his 28-year-old sister had short stature, obesity, and a pattern of minor anom...
In this report we present two brothers with abnormal neurological development, hypotonia, short stat...
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome l...
We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, bleph...
Laurence Moon-Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder that mainly affec...
We report on a mother and son affected with an unusual skeletal dysplasia and anterior segment eye a...
In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital ano...
Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and fo...
We report on four Brazilian patients with, among other signs, cleft lip and palate, dental anomalies...
We report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognat...
We report on a Brazilian mother and her son affected with mandibulofacial dysostosis, growth and men...
We report on a Brazilian boy, born to normal and nonconsanguineous parents and presenting facial asy...
We report on two sisters with an unusual form of craniosynostosis, protruding nasal spine, micrognat...
Elsahy-Waters or branchioskeletogenital syndrome is a rare MCA/MR syndrome characterized by moderate...
Smith-Magenis syndrome (SMS) is a complex congenital anomaly characterized by craniofacial anomalies...
A 13-year-old boy and his 28-year-old sister had short stature, obesity, and a pattern of minor anom...
In this report we present two brothers with abnormal neurological development, hypotonia, short stat...
Smith-Magenis syndrome (SMS) is a multiple congenital anomaly/mental retardation (MCA/MR) syndrome l...
We report on 2 brothers, born to consanguineous parents presenting thin/long face, small ears, bleph...
Laurence Moon-Bardet-Biedl syndrome is a rare autosomal recessive genetic disorder that mainly affec...
We report on a mother and son affected with an unusual skeletal dysplasia and anterior segment eye a...
In 1990, Lambotte syndrome was reported as an apparently autosomal recessive multiple congenital ano...
Spondylocostal dysostosis (SCD) is a genetic disorder characterized by vertebral segmentation and fo...
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