Biallelic hypomorphic variants in ALDH1A2 cause a novel lethal human multiple congenital anomaly syndrome encompassing diaphragmatic, pulmonary, and cardiovascular defects

2021 ◽  
Author(s):  
Sarah J. Beecroft ◽  
Marcos Ayala ◽  
George McGillivray ◽  
Vikas Nanda ◽  
Emanuele Agolini ◽  
...  
Keyword(s):  
Congenital Anomaly ◽  
Multiple Congenital Anomaly ◽  
Cardiovascular Defects

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.

Familial case of Fryns syndrome in two fetuses in second trimester

2018 ◽  
Author(s):  
I.V. Novikova, S.I. Kovalev, E.I. Marakhovskaya
Keyword(s):  
Congenital Anomaly ◽  
Family History ◽  
Congenital Diaphragmatic Hernia ◽  
Diaphragmatic Hernia ◽  
Autosomal Recessive ◽  
Second Trimester ◽  
Multiple Congenital Anomaly ◽  
Distal Limb ◽  
Limb Deformity ◽  
Recessive Defect

Fryns syndrome (FS) is a multiple congenital anomaly syndrome, inherited as an autosomal recessive defect with diagnostic triad including diaphragmatic hernia, abnormal face, and distal limb anomalies. Two cases of FS in the fetuses, whose mother had previous affected pregnancy with the infant having diaphragmatic hernia are presented. Both fetuses have atypical limb deformity, ectrodactyly. These cases illustrate the spectrum of FS and the importance of a family history in fetuses with congenital diaphragmatic hernia.

scholarly journals Barber-Say syndrome: further delineation of the clinical spectrum

2000 ◽  
Vol 23 (2) ◽  
pp. 265-267 ◽  
Author(s):  
Fanny M. Cortés ◽  
Ledia A. Troncoso ◽  
Angélica R. Alliende ◽  
Bianca L. Curotto
Keyword(s):  
Congenital Anomaly ◽  
Clinical Spectrum ◽  
Multiple Congenital Anomaly ◽  
Anomaly Pattern ◽  
Thick Skin

We report on a 14-year-old girl who presented a multiple congenital anomaly pattern: ablepharon, hypertelorism, telecanthus, macrostomia, helix agenesis of both ears, redundant thick skin and severe hirsutism, the 5th reported case of Barber-Say syndrome. Our patient had almost the same phenotype as that of the patient cited by Martínez Santana et al. (Am. J. Med. Genet. 47: 20-23, 1993) including the same until then undescribed dermatoglyphic pattern.

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