On macrocephaly, epilepsy, autism, specific facial features, and mental retardation

2003 ◽  
Vol 120A (4) ◽  
pp. 564-565 ◽  
Author(s):  
Carlos Eduardo Steiner ◽  
Marilisa Mantovani Guerreiro ◽  
Antonia Paula Marques-de-Faria
Keyword(s):  
Mental Retardation ◽  
Facial Features

Hirschsprung disease, mental retardation, characteristic facial features, and mutation in the geneZFHX1B (SIP1): Confirmation of the Mowat-Wilson syndrome

2003 ◽  
Vol 116A (4) ◽  
pp. 385-388 ◽  
Author(s):  
L. Garavelli ◽  
A. Donadio ◽  
C. Zanacca ◽  
G. Banchini ◽  
E. Della Giustina ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Hirschsprung Disease ◽  
Facial Features

scholarly journals Partial deletion of the long arm of chromosome 7: a case report

Open Medicine ◽  
2018 ◽  
Vol 13 (1) ◽  
pp. 433-435 ◽  
Author(s):  
Chun Zhu ◽  
Mei-Ling Tong ◽  
Xia Chi
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Bone Age ◽  
Chromosome 7 ◽  
Facial Features ◽  
Mild Mental Retardation ◽  
Partial Deletion ◽  
Nasal Bridge ◽  
Case Presentations ◽  
Broad Nasal Bridge

AbstractStudy advances with a childhood case of partial deletion of the long arm of chromosome 7. The patient is a 36-month-old girl with growth retardation, mild mental retardation and delayed bone age. She showed no signs of hypotelorism, upslanting palpebral fissures, epicanthal folds, low-set ears, or flat and broad nasal bridge. Microarray testing using the Affymetrix CytoScan HD array revealed an approximately 58 kb deletion at 7q31.1 in the girl and her father, suggesting paternal origin. As the patient had no characteristic facial features, 7q deletions had not been considered. This case broadens the range of case presentations for microdeletions of chromosome 7.

Hirschsprung disease, mental retardation and dysmorphic facial features in five unrelated children

2001 ◽  
Vol 10 (3) ◽  
pp. 157-163 ◽  
Author(s):  
H. K????ri??inen ◽  
C. Wallgren-Pettersson ◽  
A. Clarke ◽  
H. Pihko ◽  
H. Taskinen ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Hirschsprung Disease ◽  
Facial Features

Craniosynostosis in Kabuki syndrome

2010 ◽  
Vol 6 (2) ◽  
pp. 198-201 ◽  
Author(s):  
Juan F. Martínez-Lage ◽  
Matías Felipe-Murcia ◽  
Encarna Guillén Navarro ◽  
María-José Almagro ◽  
Antonio López López-Guerrero ◽  
...  
Keyword(s):  
Mental Retardation ◽  
Short Stature ◽  
Surgical Correction ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Neurological Manifestations ◽  
Skeletal Anomalies ◽  
Moderate Mental Retardation ◽  
Cns Anomalies

Niikawa-Kuroki, or Kabuki syndrome (KS), is characterized by distinctive facial features, skeletal anomalies, persisting fingertip pads with dermatoglyphic abnormalities, short stature, and mental retardation. Neurological manifestations and CNS anomalies have been described in some patients with this condition. However, craniosynostosis has been documented in only 4 patients with KS who did not undergo operations. The authors report a case of KS with unicoronal synostosis that constitutes the first documented instance of a patient with this syndrome submitted to surgery. Previous reported instances of craniosynostosis occurring in KS are briefly reviewed. Although rarely documented, craniosynostosis might represent a relatively frequent feature of this syndrome. Kabuki syndrome should be considered at the time of evaluating children with craniosynostosis. The diagnosis of KS can be suspected from the patients' characteristic facial features. Kabuki syndrome appears to be an underdiagnosed condition in the craniosynostosis population. Given that most patients with this syndrome suffer from only mild to moderate mental retardation, surgical correction can be considered in instances of KS with craniosynostosis.

A case report of seckel syndrome

2018 ◽  
Vol 10 (2) ◽  
pp. 39-42
Author(s):  
Chaitanya R Uppin
Keyword(s):  
Mental Retardation ◽  
Case Report ◽  
Birth Weight ◽  
Autosomal Recessive ◽  
Autosomal Recessive Disorder ◽  
Facial Features ◽  
Narrow Face ◽  
Seckel Syndrome ◽  
Small Head ◽  
Autosomal Recessive Pattern

Seckel syndrome, first defined by Seckel in 1960, is a rare (incidence 1:10,000) genetically heterogeneous autosomal recessive disorder presenting at birth. Seckel described the disease on the basis of two cases he had studied in Chicago as well as 13 cases on nanocephalic dwarfs reported in the literature over a 200-year period. It is Characterized by dwarfism prenatally resulting in low birth weight, abnormally small head with a “bird‑headed” like appearance (beaked nose, receding forehead, prominent eyes, and micrognathia) and mental retardation. Other facial features include abnormally large eyes and narrow face. This syndrome has an autosomal recessive pattern of inheritance. A case of Seckel syndrome that was reported is described in this article.

Lower Lip Pits: Van der Woude or Kabuki Syndrome?

2014 ◽  
Vol 51 (6) ◽  
pp. 729-734 ◽  
Author(s):  
Ferri P. David-Paloyo ◽  
Xuecai Yang ◽  
Ju-Li Lin ◽  
Fen-Hwa Wong ◽  
Yah-Huei Wu-Chou ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Mental Retardation ◽  
Clinical Spectrum ◽  
Facial Features ◽  
Kabuki Syndrome ◽  
Multiple Congenital Anomaly ◽  
Van Der Woude Syndrome ◽  
Lower Lip ◽  
Long Term Prognosis

Kabuki syndrome (KS) is a multiple congenital anomaly/mental retardation syndrome with characteristic facial features. Despite more than 350 documented cases and recent correlation of MLL2 mutations as a genetic cause, its full clinical spectrum is still being defined. This report describes two patients who were initially diagnosed with Van der Woude syndrome (VWS) based on the presence of lower lip pits. However, this finding can occur with KS, albeit infrequently. For patients with lower lip pits, a thorough evaluation should be made to distinguish between VWS and KS, as there are differences in long-term prognosis.

scholarly journals Coffin Siris Syndrome with Significant Autistic Features.

2019 ◽  
pp. 1-3 ◽  
Keyword(s):  
Mental Retardation ◽  
Pervasive Developmental Disorder ◽  
Developmental Disorder ◽  
Scalp Hair ◽  
Facial Features ◽  
Wide Mouth ◽  
The World ◽  
Case Number

Abstract Coffin Siris Syndrome is a rare genetic dysmorphic disorder that was first described by Coffin and Siris in 1970. It is associated with mental retardation and distinctive coarse facial features including wide nose, wide mouth with thick everted upper and lower lips, thick eyebrows and lashes, hirsutism/hypertrichosis. Sparse scalp hair particularly in the temporal areas. Coffin Siris syndrome has been reported only once in Iraq. The first Iraq patient with Coffin Siris syndrome (Al Mosawi AJ,2006) was also the first patient in the Arab. The occurrence of significant autistic features in form of pervasive developmental disorder or autism has been very infrequently reported in association with Coffin Siris syndrome. This aim to report which is most probably the seventh case of Coffin Siris Syndrome associated with significant autistic features. The case is the second case of this syndrome in Iraq which is also the case number 170 in the world.

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