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The top documents of a-richieri-costa

Syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a brazilian family
Syndrome of acrofacial dysostosis, cleft lip/palate, and triphalangeal thumb in a brazilian family
212 views
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and
A previously undescribed autosomal recessive multiple congenital anomalies/mental retardation (MCA/MR) syndrome with fronto-nasal dysostosis, cleft lip/palate, limb hypoplasia, and
227 views
Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?
Unusual type of brachydactyly associated with short stature and facial anomalies. A new syndrome?
212 views
FG syndrome in a Brazilian child with additional previously unreported signs
FG syndrome in a Brazilian child with additional previously unreported signs
212 views
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: Report of a Brazilian family
Antecubital pterygium and cleft lip/palate presenting as signs of the nail-patella syndrome: Report of a Brazilian family
213 views
New syndrome: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies
New syndrome: Mental retardation, microbrachycephaly, hypotelorism, palpebral ptosis, thin/long face, cleft lip, and lumbosacral/pelvic anomalies
214 views
Autosomal dominant tibial hemimelia–polysyndactyly-triphalangeal thumbs syndrome: Report of a Brazilian family
Autosomal dominant tibial hemimelia–polysyndactyly-triphalangeal thumbs syndrome: Report of a Brazilian family
213 views
Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia
Sporadic, idiopathic MCA syndrome with mandibulofacial dysostosis and tibial hemimelia
215 views
Newly recognized blepharofacioskeletal Syndrome
Newly recognized blepharofacioskeletal Syndrome
234 views
Newly recognized autosomal recessive faciothoracoskeletal syndrome
Newly recognized autosomal recessive faciothoracoskeletal syndrome
221 views
Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: A new MCA/MR syndrome of unknown cause
Mental retardation, structural anomalies of the central nervous system, anophthalmia and abnormal nares: A new MCA/MR syndrome of unknown cause
213 views
Reply to Dr. Ramírez-Dueñtas and Dr. Cantú
Reply to Dr. Ramírez-Dueñtas and Dr. Cantú
218 views
Acro-fronto-facio-nasal dysostosis: Report of a new brazilian family
Acro-fronto-facio-nasal dysostosis: Report of a new brazilian family
223 views
Mandibulofacial dysostosis: Report on two Brazilian families suggesting autosomal recessive inheritance
Mandibulofacial dysostosis: Report on two Brazilian families suggesting autosomal recessive inheritance
221 views
Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients
Autosomal recessive short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfeet in male patients
216 views
Oblique facial clefts: Report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity
Oblique facial clefts: Report on 4 Brazilian patients. Evidence for clinical variability and genetic heterogeneity
215 views
Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: A new autosomal recessive syndrome
Short stature, Robin sequence, cleft mandible, pre/postaxial hand anomalies, and clubfoot: A new autosomal recessive syndrome
212 views
Arachnoidal cyst, orofacial dysplasia, poor motor control, and severe language delay
Arachnoidal cyst, orofacial dysplasia, poor motor control, and severe language delay
215 views