THIS syndrome was first described by Marchesani (1939), and no case has hitherto been reported from Pakistan. The following patient came under observation recently. Case Report A Bengali Muslim boy aged 14 years was brought by his father with the complaint of defective vision, especially at night, since childhood. The parents first noticed the dis-ability when the boy was 3 years old. He was born at full-term, but started walking very late at the age of 5 years. Both the parents were of short stature (father-5 ' 2"; mother-5'), but the patient's other brothers and sisters were of average height. None showed any ocular anomalies of congenital origin. No history of night blindness could be elicited in the family. There was...
A boy of 10 years was admitted in our hospital for recurrent generalized seizures, spastic tetrapare...
We describe three male individuals from a consanguineous south Indian family affected with the multi...
In daily life, myopia is a frequent cause of reduced visual acuity (VA) due to missing or incomplete...
This study reports a single case of Weill-Marchesani syndrome in an adult Nigerian. This syndrome is...
Weill Marchesani syndrome is a rare genetic disorder characterized by short stature, brachydactyly, ...
Mabry syndrome is the triad of seizures, hyperphosphatasia, and mental disability. It usually manife...
Noonan Syndrome is a rare, autosomal dominant disorder characterized by short stature, facial abnorm...
Scoliosis, blindness and arachnodactyly in a large Turkish family is it a new-syndrome?: In this rep...
SUMMARY A boy with intrauterine growth retardation, microcephaly, dysostosis of the skull, hypoplast...
WOS: 000245901700007PubMed ID: 17515302Martsolf syndrome is an autosomal recessive syndrome characte...
Congenital ocular motor apraxia (COMA) is a unique ocular motor disorder which is characterized by a...
A 15 year old schoolboy was referred for follow-up of a chronic neurologic disease. His gestation an...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder....
SYNOPSIS Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cata...
Acromesomelic dwarfism is a skeletal dysplasia characterized by disproportion-ate short stature with...
A boy of 10 years was admitted in our hospital for recurrent generalized seizures, spastic tetrapare...
We describe three male individuals from a consanguineous south Indian family affected with the multi...
In daily life, myopia is a frequent cause of reduced visual acuity (VA) due to missing or incomplete...
This study reports a single case of Weill-Marchesani syndrome in an adult Nigerian. This syndrome is...
Weill Marchesani syndrome is a rare genetic disorder characterized by short stature, brachydactyly, ...
Mabry syndrome is the triad of seizures, hyperphosphatasia, and mental disability. It usually manife...
Noonan Syndrome is a rare, autosomal dominant disorder characterized by short stature, facial abnorm...
Scoliosis, blindness and arachnodactyly in a large Turkish family is it a new-syndrome?: In this rep...
SUMMARY A boy with intrauterine growth retardation, microcephaly, dysostosis of the skull, hypoplast...
WOS: 000245901700007PubMed ID: 17515302Martsolf syndrome is an autosomal recessive syndrome characte...
Congenital ocular motor apraxia (COMA) is a unique ocular motor disorder which is characterized by a...
A 15 year old schoolboy was referred for follow-up of a chronic neurologic disease. His gestation an...
Blepharophimosis-ptosis-epicanthus inversus syndrome (BPES) is a rare developmental ocular disorder....
SYNOPSIS Two male cousins are reported with arachnodactyly, selective aminoaciduria, congenital cata...
Acromesomelic dwarfism is a skeletal dysplasia characterized by disproportion-ate short stature with...
A boy of 10 years was admitted in our hospital for recurrent generalized seizures, spastic tetrapare...
We describe three male individuals from a consanguineous south Indian family affected with the multi...
In daily life, myopia is a frequent cause of reduced visual acuity (VA) due to missing or incomplete...