Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology

Cox, Timothy C.

doi:10.1111/j.0009-9163.2004.00225.x

Cited by 116 publications

(125 citation statements)

References 84 publications

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“…Recently, Senders et al (2003) presented high resolution SEM pictures of developing cynomolgus monkey embryonic faces. Comparing these with other histological and SEM studies of facial development in mouse and chick (Trasler, 1968;Gaare and Langman, 1977a,b;Yee and Abbott, 1978;Millicovsky and Johnston, 1981;Millicovsky et al, 1982;Trasler and Ohannessian, 1983;Cox, 2004) provides an accurate understanding of the morphological processes involved in facial development.…”

Section: Morphogenesis Of the Upper Lipmentioning

confidence: 72%

“…Facial morphogenesis in chick is slightly different from that in mammals, because the medial nasal process appears as a single entity sometimes referred as the frontal or frontonasal process, and the entire embryonic chick face appears in a square configuration before lip fusion (Yee and Abbott, 1978;Young et al, 2000;Cox, 2004). Despite the differences, close examination of SEM micrographs of the early fusion stage chick face showed that the initial contact and initiation of active cellular processes of fusion also begins between the lateral and medial nasal processes (Fig.…”

Section: Morphogenesis Of the Upper Lipmentioning

confidence: 99%

“…Whereas the union between the freely projected maxillary, lateral nasal, and medial nasal processes clearly involves active epithelial fusion, closure of the median groove between the paired medial nasal processes in mammals does not (Trasler, 1968;Millicovsky and Johnston, 1981;Millicovsky et al, 1982;Trasler and Ohannessian, 1983;Hinrichsen, 1985;Senders et al, 2003;Cox, 2004). As the epithelial fusion between maxillary, lateral nasal, and medial nasal processes continues from stage 16 to stage 18 (toward the beginning of the seventh week of gestation in human, The boundary between the maxillary and lateral nasal processes is clearly marked by the rounded cells at the surface.…”

Section: Morphogenesis Of the Upper Lipmentioning

confidence: 99%

“…Confusion exists in the literature with regard to the morphological processes leading to the formation of the intact upper lip. Whereas several studies describe that the upper lip forms from fusion between the maxillary and the medial nasal processes (e.g., Sun et al, 2000;Ashique et al, 2002;Sperber, 2002;Cox, 2004), others state that a cleft lip results when the epithelia of the opposing medial and lateral nasal processes fail to make contact (Trasler, 1968;Gaare and Langman, 1977a;Gong and Guo, 2003). The confusion may have arisen due in part to species differences (e.g., chick vs. mouse and human) in facial morphogenesis and in part to lack of synthesis of the fragmentary and often incomplete information gained from individual studies.…”

Section: Introductionmentioning

confidence: 99%

“…The confusion may have arisen due in part to species differences (e.g., chick vs. mouse and human) in facial morphogenesis and in part to lack of synthesis of the fragmentary and often incomplete information gained from individual studies. Moreover, whereas it has been widely accepted that epithelial-mesenchymal transformation (EMT) of the epithelial seam is the major mechanism for both lip and palate fusion (Fitchett and Hay, 1989;Shuler et al, 1991Shuler et al, , 1992Griffith and Hay, 1992;Hay, 1995Hay, , 2005Sun et al, 2000;Cox, 2004;Nawshad et al, 2004), recent studies have challenged this theory and demonstrated that the palatal epithelial seam gradually regresses by programmed cell death rather than by EMT (Cuervo and Covarrubias, 2004;Vaziri Sani et al, 2005). At the molecular level, recent studies in chick and mice have identified specific roles for several major signaling pathways, including Bmp, Fgf, and Shh signaling pathways in midfacial morphogenesis (Hu and Helms, 1999;Trumpp et al, 1999;Ashique et al, 2002;Trokovic et al, 2003;Jeong et al, 2004;Liu et al, 2005b).…”

Section: Introductionmentioning

confidence: 99%

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Development of the upper lip: Morphogenetic and molecular mechanisms

Jiang

Bush

Lidral

2005

Developmental Dynamics

288

304

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The vertebrate upper lip forms from initially freely projecting maxillary, medial nasal, and lateral nasal prominences at the rostral and lateral boundaries of the primitive oral cavity. These facial prominences arise during early embryogenesis from ventrally migrating neural crest cells in combination with the head ectoderm and mesoderm and undergo directed growth and expansion around the nasal pits to actively fuse with each other. Initial fusion is between lateral and medial nasal processes and is followed by fusion between maxillary and medial nasal processes. Fusion between these prominences involves active epithelial filopodial and adhering interactions as well as programmed cell death. Slight defects in growth and patterning of the facial mesenchyme or epithelial fusion result in cleft lip with or without cleft palate, the most common and disfiguring craniofacial birth defect. Recent studies of craniofacial development in animal models have identified components of several major signaling pathways, including Bmp, Fgf, Shh, and Wnt signaling, that are critical for proper midfacial morphogenesis and/or lip fusion. There is also accumulating evidence that these signaling pathways cross-regulate genetically as well as crosstalk intracellularly to control cell proliferation and tissue patterning. This review will summarize the current understanding of the basic morphogenetic processes and molecular mechanisms underlying upper lip development and discuss the complex interactions of the various signaling pathways and challenges for understanding cleft lip pathogenesis.

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Section: Morphogenesis Of the Upper Lipmentioning

confidence: 72%

Section: Morphogenesis Of the Upper Lipmentioning

confidence: 99%

Section: Morphogenesis Of the Upper Lipmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

Section: Introductionmentioning

confidence: 99%

See 3 more Smart Citations

Development of the upper lip: Morphogenetic and molecular mechanisms

Jiang

Bush

Lidral

2005

Developmental Dynamics

288

304

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Craniofacial Defects and Cleft Lip and Palate

Richman

Vora

2017

Encyclopedia of Life Sciences

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Serious malformations of the face present at birth are due to disturbances of embryonic development. Formation of the face begins during the fifth week post conception, and by 7 weeks, the lip is completely fused and continuous. The secondary palate forms between 7 and 11 weeks and is influenced by the growth of the surrounding head. Early disruption of lip and palate morphogenesis gives rise to severe orofacial clefts, whereas later disturbances cause microforms of clefting. Nonsyndromic cleft lip with or without cleft palate (NSCL/P) is linked to polymorphisms in multiple genes and influences from the environment. In contrast, syndromic facial anomalies are attributed to defined changes in the genome and are accompanied by deficiencies in several organ systems. Key Concepts The face is susceptible to malformations due to the complex 4D nature of embryonic morphogenesis. Multiple prominences need to come together and fuse at precisely the right time during development in order for lip and palate fusion to occur. The genes that cause syndromes with craniofacial phenotypes overlap with the genes that contribute to nonsyndromic abnormalities such as typical cleft lip with or without cleft palate. Abnormal jaw relationships, especially mandibular prognathism, are partially genetically determined. Novel genes that increase risk of being born with NSCL/P have been identified with Genome Wide Association Studies and targeted sequencing. Midline clefts have a different etiology and appearance than non‐syndromic cleft lip. Midline clefts are part of the midline deficiencies in holoprosencephaly.

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Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

Suckow

Kijas

et al. 2004

American J of Med Genetics Pt A

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Opitz syndrome (OS; MIM 145410 and MIM 300000) is a congenital midline malformation syndrome characterized by hypertelorism, hypospadias, cleft lip/palate, laryngotracheoesophageal (LTE) abnormalities, imperforate anus, developmental delay, and cardiac defects. The X-linked form (XLOS) is caused by mutations in the MID1 gene, which encodes a microtubule-associated RBCC protein. In this study, phenotypic manifestations of patients with and without MID1 mutations were compared to determine genotype-phenotype correlations. We detected 10 novel mutations, 5 in familial cases, 2 in sporadic cases, and 3 in families for whom it was not clear if they were familial or sporadic. The genotype and phenotype was compared for these 10 families, clinically diagnosed OS patients found not to have MID1 mutations, and 4 families in whom we have previously reported MID1 mutations. This combined data set includes clinical and mutation data on 70 patients. The XLOS patients with MID1 mutations were less severely affected than patients with MID1 mutations reported in previous studies, particularly in functionally significant neurologic, LTE, anal, and cardiac abnormalities. Minor anomalies were more prevalent in patients with MID1 mutations compared to those without mutations in this study. Female MID1 mutation carriers had milder phenotypes compared to male MID1 mutation carriers, with the most common manifestation being hypertelorism in both sexes. Most of the anomalies found in the patients of the present study do not correlate with the MID1 mutation type, with the possible exception of LTE malformations. This study demonstrates the wide spectrum of severity and manifestations of OS. It also shows that XLOS patients with MID1 mutations may be less severely affected than indicated in prior reports.

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Taking it to the max: The genetic and developmental mechanisms coordinating midfacial morphogenesis and dysmorphology

Cited by 116 publications

References 84 publications

Development of the upper lip: Morphogenetic and molecular mechanisms

Development of the upper lip: Morphogenetic and molecular mechanisms

Craniofacial Defects and Cleft Lip and Palate

Mild phenotypes in a series of patients with Opitz GBBB syndrome with MID1 mutations

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