Autosomal dominant partial lipodystrophy associated with Rieger anomaly, short stature, and insulinopenic diabetes

1983 ◽  
Vol 15 (1) ◽  
pp. 29-38 ◽  
Author(s):  
Dagfinn Aarskog ◽  
Leiv Ose ◽  
Helene Pande ◽  
Nils Eide ◽  
John M. Opitz
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Partial Lipodystrophy

scholarly journals Mutations in C-natriuretic peptide (NPPC): a novel cause of autosomal dominant short stature

2017 ◽  
Vol 20 (1) ◽  
pp. 91-97 ◽  
Author(s):  
Alfonso Hisado-Oliva ◽  
Alba Ruzafa-Martin ◽  
Lucia Sentchordi ◽  
Mariana F A Funari ◽  
Carolina Bezanilla-López ◽  
...  
Keyword(s):  
Short Stature ◽  
Natriuretic Peptide ◽  
Autosomal Dominant

Corneal changes, hyperkeratosis, short stature, brachydactyly, and premature birth: A new autosomal dominant syndrome

1984 ◽  
Vol 18 (1) ◽  
pp. 67-77 ◽  
Author(s):  
Judith K. Stern ◽  
Mark S. Lubinsky ◽  
Daniel S. Durrie ◽  
John R. Luckasen ◽  
John M. Opitz
Keyword(s):  
Short Stature ◽  
Premature Birth ◽  
Autosomal Dominant

scholarly journals Noonan syndrome: a clinical and genetic study of 31 patients

1999 ◽  
Vol 54 (5) ◽  
pp. 147-150 ◽  
Author(s):  
Débora Romeo Bertola ◽  
Sofia M. M. Sugayama ◽  
Lilian Maria José Albano ◽  
Ae Kim Chong ◽  
Claudette Hajaj Gonzalez
Keyword(s):  
Congenital Anomaly ◽  
Short Stature ◽  
Family Member ◽  
Genetic Study ◽  
Noonan Syndrome ◽  
Autosomal Dominant ◽  
Clinical Findings ◽  
Multiple Congenital Anomaly ◽  
Genetic Characteristics ◽  
Cardiac Anomalies

Noonan syndrome is a multiple congenital anomaly syndrome, inherited in an autosomal dominant pattern. We studied 31 patients (18 males and 13 females) affected by this disorder regarding their clinical and genetic characteristics. The most frequent clinical findings were short stature (71%); craniofacial dysmorphisms, especially hypertelorism, ptosis, downslanting of the palpebral fissures; short or webbed neck (87%); cardiac anomalies (65%), and fetal pads in fingers and toes (70%). After studying the probands' first-degree relatives, we made the diagnosis of Noonan syndrome in more than one family member in three families. Therefore, the majority of our cases were sporadic.

scholarly journals Novel subtype of congenital partial lipodystrophy with mandibular hypoplasia, sensorineural deafness and short stature of unknown genetic origin

2017 ◽  
Vol 8 (1) ◽  
pp. 121-122 ◽  
Author(s):  
Haruka Sasaki ◽  
Kumiko Ohkubo ◽  
Kunihisa Kobayashi ◽  
Yuji Tajiri ◽  
Satoshi Ugi ◽  
...  
Keyword(s):  
Short Stature ◽  
Sensorineural Deafness ◽  
Genetic Origin ◽  
Partial Lipodystrophy ◽  
Mandibular Hypoplasia

scholarly journals Familial Type C Syndrome of Insulin Resistance and Short Stature with Possible Autosomal Dominant Transmission.

1989 ◽  
Vol 36 (3) ◽  
pp. 349-358 ◽  
Author(s):  
FUMIKO NAKAMURA ◽  
MASATO TAIRA ◽  
NAOTAKE HASHIMOTO ◽  
HIDEICHI MAKINO ◽  
NOZOMU SASAKI
Keyword(s):  
Insulin Resistance ◽  
Short Stature ◽  
Autosomal Dominant ◽  
Autosomal Dominant Transmission ◽  
Familial Type ◽  
Type C

A novel familial autosomal dominant mutation inARID1Bcausing neurodevelopmental delays, short stature, and dysmorphic features

2016 ◽  
Vol 170 (12) ◽  
pp. 3313-3318 ◽  
Author(s):  
Joshua A. Smith ◽  
Kenton R. Holden ◽  
Michael J. Friez ◽  
Julie R. Jones ◽  
Michael J. Lyons
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Dominant Mutation ◽  
Dysmorphic Features

Convergence of two types of familial short stature in a pedigree

1981 ◽  
Vol 97 (3) ◽  
pp. 315-319
Author(s):  
F. Mollica ◽  
S. Li Volti ◽  
L. Pavone ◽  
R. Vigo ◽  
S. Raiti
Keyword(s):  
Growth Hormone ◽  
Growth Hormone Deficiency ◽  
Short Stature ◽  
Autosomal Dominant ◽  
Hormone Deficiency ◽  
Type Ii ◽  
Dominant Trait ◽  
Autosomal Dominant Trait ◽  
Isolated Growth Hormone Deficiency

Abstract. This study reports an unusual family with coexistence of isolated growth hormone deficiency transmitted as an autosomal dominant trait (Rimoin Type II) and constitutional short stature.

scholarly journals Cleidocranial dysplasia: description with emphasis on the radiographic aspects of three cases in a family

2018 ◽  
Vol 50 (6) ◽  
pp. 371-376
Author(s):  
Rodolfo Mendes Queiroz ◽  
José Eduardo Martins Coelho ◽  
Leandro Fuso Ruiz ◽  
Rodrigo Castro Cervato ◽  
Mariana Do Val Cervelatti ◽  
...  
Keyword(s):  
Short Stature ◽  
Autosomal Dominant ◽  
Tooth Eruption ◽  
Anterior Region ◽  
Cleidocranial Dysplasia ◽  
Sagittal Suture ◽  
Supernumerary Teeth ◽  
Genetic Syndrome ◽  
Wormian Bones ◽  
Sporadic Cases

We describe three cases of cleidoclavicular dysplasia in a family, a rare genetic syndrome, presenting autosomal dominant behavior, but with 20-40% of sporadic cases, with an estimated incidence of 1-9/ 1.000.000. The study is based on a family consisting of the parent couple, two daughters and one child. In this group, the mother and the two daughters presented a short stature, with a frontal cranial frontotemporal region, prominent sagittal suture mainly in the anterior region, brachycephaly, mild exophthalmia, broad neck and reduction of the laterolateral diameter of the upper portion of the thorax. In the radiographs of the skull and chest, the presence of Wormian bones in the skull cap, supernumerary teeth, anomalies of tooth eruption and absent or rudimentary clavicles were observed in all three. In view of the findings, the diagnosis of cleidocranial dysplasia was established.

scholarly journals Pseudoachondroplasia: Report on a South African family

2013 ◽  
Vol 17 (2) ◽  
pp. 65-67 ◽  
Author(s):  
Shahida Moosa ◽  
Gen Nishimura
Keyword(s):  
Short Stature ◽  
South African ◽  
Skeletal Dysplasia ◽  
Autosomal Dominant ◽  
Lower Limbs ◽  
Normal Length ◽  
Radiographic Features ◽  
Radiological Features

Pseudoachondroplasia is an autosomal dominant skeletal dysplasia that results in disproportionately short stature, severe brachydactyly with strikingly lax small joints, malalignments of the lower limbs, and characteristic radiological features. Although named ‘false achondroplasia’, the entity is a distinct condition, in which affected individuals are born with normal length and have a normal facies, but is often only recognised after the age of 2 years, when the disproportion and waddling gait become evident. We report on an affected South African father and daughter, and highlight their clinical and radiographic features.

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