Bilateral Cleft Lip: A Potential Variant Form of Orofaciodigital Syndrome Type II?

2012 ◽  
Vol 70 (11) ◽  
pp. 2669-2673
Author(s):  
Yan-bin Liu ◽  
Zhan-kui Xing ◽  
Lan Yang ◽  
Long-jiang Li ◽  
Ying Liu ◽  
...  
2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Masayuki Osawa ◽  
Yuhei Yamamoto ◽  
Munezumi Fujita ◽  
Taku Maeda ◽  
Emi Funayama

2019 ◽  
Author(s):  
Afshin Saffari ◽  
Stefan Kölker ◽  
Georg Friedrich Hoffmann ◽  
Andreas Ziegler

2015 ◽  
Vol 24 (4) ◽  
pp. 523-526 ◽  
Author(s):  
Yoshihiro Maruo ◽  
Mahdiyeh Behnam ◽  
Shinichi Ikushiro ◽  
Sayuri Nakahara ◽  
Narges Nouri ◽  
...  

Background: Crigler–Najjar syndrome type I (CN-1) and type II (CN-2) are rare hereditary unconjugated hyperbilirubinemia disorders. However, there have been no reports regarding the co-existence of CN-1 and CN-2 in one family. We experienced a case of an Iranian family that included members with either CN-1 or CN-2. Genetic analysis revealed a mutation in the bilirubin UDP-glucuronosyltransferase (UGT1A1) gene that resulted in residual enzymatic activity.Case report: The female proband developed severe hyperbilirubinemia [total serum bilirubin concentration (TB) = 34.8 mg/dL] with bilirubin encephalopathy (kernicterus) and died after liver transplantation. Her family history included a cousin with kernicterus (TB = 30.0 mg/dL) diagnosed as CN-1. Her great grandfather (TB unknown) and uncle (TB = 23.0 mg/dL) developed jaundice, but without any treatment, they remained healthy as CN-2. Results: The affected cousin was homozygous for a novel frameshift mutation (c.381insGG, p.C127WfsX23). The affected uncle was compound heterozygous for p.C127WfsX23 and p.V225G linked with A(TA)7TAA. p.V225G-UGT1A1 reduced glucuronidation activity to 60% of wild-type. Thus, linkage of A(TA)7TAA and p.V225G might reduce UGT1A1 activity to 18%–36 % of the wild-type. Conclusion: Genetic and in vitro expression analyses are useful for accurate genetic counseling for a family with a history of both CN-1 and CN-2. Abbreviations: CN-1: Crigler–Najjar syndrome type I; CN-2: Crigler–Najjar syndrome type II; GS: Gilbert syndrome; UGT1A1: bilirubin UDP-glucuronosyltransferase; WT: Wild type; TB: total serum bilirubin.


2021 ◽  
pp. 105566562110244
Author(s):  
Diana S. Jodeh ◽  
Jacqueline M. Ross ◽  
Maria Leszczynska ◽  
Fatima Qamar ◽  
Rachel L. Dawkins ◽  
...  

Objective: We aimed to assess significant ethnic variabilities in infants’ nasolabial anthropometry to motivate variations in surgical correction of a synchronous bilateral cleft lip/nasal anomaly, specifically whether a long columella is a European feature, therefore accepting a short columella and/or delayed columellar lengthening suitable for reconstruction in ethnic patients. Methods: Thirty-three infants without craniofacial pathology (10 African American [AA], 7 Hispanic [H], and 16 of European descent [C]), ages 3 to 8 months, presenting to the Johns Hopkins All Children’s general pediatric clinic were recruited. Four separate 3D photographs (2 submental and frontal views each) were taken using the Vectra H1 handheld camera (Canfield Imaging). Eighteen linear facial distances were measured using Mirror 3D analysis (Canfield Imaging Systems). Difference between ethnicities was measured using analysis of variance with the Bonferroni/Dunn post hoc comparisons. Pearson correlation was employed for interrater reliability. All statistical analyses were carried out using SPSS version 21.0 (IBM Corp), with statistical significance set at P < .05. Results: Nasal projection (sn-prn) and columella length (sn-c) did not differ significantly between groups ( P = .9). Significant differences were seen between ethnic groups in nasal width (sbal-sbal [C-AA; P = .02]; ac-ac [C-AA; P = .00; H-AA; P = .04]; al-al [C-AA; P = .00; H-AA; P = .001]) and labial length (sn-ls [C-AA; P = .041]; sn-sto [C-AA; P = .005]; Cphs-Cphi L [C-AA; P = .013]; Cphs-Cphi R [C-AA; P = .015]). Interrater reliability was good to excellent and significantly correlated for all measures. Conclusions: African American infants exhibited wider noses and longer lips. No difference was noted in nasal projection or columella length, indicating that these structures should be corrected during the primary cleft lip and nasal repair for all patients and should not be deferred to secondary correction.


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