Clinical summary The patient, now 11 years old, is a girl born by elective cesarean section after an uneventful pregnancy. Neonatal findings were normal. She has two healthy siblings and healthy parents. Lack of eye contact was noted at 6 weeks of age, and strabismus, intermittent nystagmus, and mild hypotonia were noted at 4 months of age. Some febrile tonic–clonic seizures were observed betwe...

Correspondence: Dr MD Scarlett, Department of Surgery, Radiology, Anaesthesia and Intensive Care, The University of the West Indies, Kingston 7, Jamaica, West Indies. Fax: 977-6160, e-mail: [email protected] CASE REPORT A 12-year-old boy of height 130 cm and weight 26.9 kg was scheduled for elective right orchidopexy for an undescended right testis and herniotomy for right inguinal hernia. Russ...

Multiple patients with rearrangements of the short arm of 8p23.1 have been reported, including inverted and tandem duplications of 8p, deletions of 8p23, pericentric inversions (p23q22), and isolated duplications of 8p23. The clinical significance of duplication of 8p23.1 remains controversial. Krasikov et al, Williams et al, Barber et al, and O’Malley and Storto together have reported 29 patie...

The brachydactylies are a heterogeneous group of inherited digital abnormalities originally classified into five types, on the basis of malformation of the digits. Among them, brachydactyly type A1 (BDA-1, MIM 112500), also referred to as Farrabee or Fitch type 9, is mainly characterised by short middle phalanges, which may be fused to the terminal ones. 2 All the small tubular bones tend to be...

Riya George1, MD; Fehmida Najmuddin*2, MD; Rajesh Rai2, MD; Keya Lahiri2, DCH, MD 1Department of Pediatrics, KJ Somaiya Medical College, 2DY Patil Medical College, Hospital & Research Centre, India Received: Apr 15, 2014; Accepted: Aug 19, 2014; Online Available: Sep 10, 2014 Trichorhinophalangeal syndrome (TRPS), as the name suggests is a rare genetic disorder which affects the tricho (hair), ...

W e present images of an asymptomatic 14-month-old girl in whom a heart murmur was noted incidentally at 9 months of age during a mild bronchiolitic illness. She is the second-born child to nonconsanguineous white parents. There is no paternal family history of tall stature, sudden death, or cardiovascular or musculoskeletal problems. The father is 43 years old and 170 cm tall and had a normal ...

how to cite this article: shakiba m, nejad biglari h, alaee mr. digital and dental malformation and short stature in a patient with neurological problems: a variant of the oculodentodigital dysplasia syndrome or a new syndrome?iran j child neurol autumn 2012; 6(4): 51-54.   abstract several syndromes have been recognized with digital abnormality and cns involvement such as oculodentodigital dys...

We present a girl with del(18p) syndrome and a single maxillary central incisor; she is only the second patient in whom this association has been reported. Del(18p) syndrome results from deletion of all or part of the short arm of chromosome 18 and is probably the second most frequent autosomal deletion syndrome. It is associated with a recognisable clinical phenotype, which includes some degre...

The brachydactylies are a group of inherited disorders characterised by shortened or malformed digits that are thought to be the result of abnormal growth of the phalanges and/or metacarpals. First classified by Bell into types A, B, C, D, and E, they were reclassified by Temtamy and McKusick and Fitch. Brachydactyly type A1 (BDA1, MIM 112500) is characterised by shortened or absent middle phal...

The brachydactylies are a group of inherited disorders characterised by shortened or malformed digits that are thought to be the result of abnormal growth of the phalanges and/or metacarpals. First classified by Bell into types A, B, C, D, and E, they were reclassified by Temtamy and McKusick and Fitch. Brachydactyly type A1 (BDA1, MIM 112500) is characterised by shortened or absent middle phal...