Photoanthropometric study of craniofacial traits in individuals with Prader-Willi syndrome on short-term growth hormone therapy

An objective photoanthropometric method, useful for delineating craniofacial characteristics, was performed on 20 individuals with Prader-Willi syndrome (PWS; 14 males and 6 females) under 12 years of age and on growth hormone therapy (e.g. for 3–12 months) to determine the effects of therapy on craniofacial features in PWS. Facial parameters were measured from strict frontal and profile photographic 35 mm slides and compared with other facial measurements from the same face (e.g. palpebral fissure width to bizygomatic diameter). We studied 16 photoanthropometric craniofacial indices following previously established protocols. Our photoanthropometric data on 20 PWS subjects meeting diagnostic criteria further supported previous findings of a high midface, a broad interalar distance, a prominent high chin and broad ears in PWS patients without growth hormone therapy. In addition, while on growth hormone therapy, the high midface, broad interalar distance and prominent high chin appeared to accentuate over time in relationship to untreated PWS patients. Conversely, broad appearing ears were not accentuated by growth hormone therapy in the PWS subjects analyzed in this study.     

Rubinstein-Taybi syndrome: Objective evaluation of craniofacial structure

Rubinstein-Taybi syndrome (RTS) is a rare multiple congenital anomaly syndrome comprising mental and growth retardation, broad thumbs and great toes, and an unusual face. The classical facial appearance is well-established, striking and easy to recognize. It includes downslant of the palpebral fissures, epicanthic folds, ptosis, strabismus, highly arched palate, simple ears and a small mouth. The nose is distinctive with a beaked appearance, broad fleshy bridge, deviated septum and short low columella. Previous studies have documented considerable change in this facial phenotype with time. In this study, we evaluated 31 individuals with RTS from Great Britain and The Netherlands. They range in age from 1 to 39 years. Detailed craniofacial measurements were obtained on each subject and composite pattern profiles were compiled. There was remarkable concordance of patterns at all ages from infancy to adulthood. Microcephaly was present consistently. The head was relatively round with head width equal to head length. There was narrowness at the skull base with relative broadening of the minimal frontal diameter and lower facial width. The mouth was small and ears were broad and short. Eyes were wide-spaced in comparison to upper facial width and head circumference. The child under 4 years demonstrated some differences. Width and depth of the upper face exceeded that of the lower face, where as with increasing age, mandibular dimensions were closer to normal than their maxillary counterparts. Despite these differences, the similarity of the profiles of all age groups seems to belie the phenotypic changes that can be appreciated subjectively. This suggests that major components of the change in appearance are those which have not been assessed in this study, such as palpebral fissure slant, deviation of the nasal bridge, presence of epicanthal folds or ptosis; or for which norms are not available, for example, beaking of the nose, and low nasal septum. Am. J. Med. Genet. 71:414–419, 1997. © 1997 Wiley-Liss, Inc.     

A study on facial features of children with Williams syndrome in China based on three‐dimensional anthropometric measurement technology

To describe special facial features of children with Williams syndrome in China by using method of three‐dimensional craniofacial anthropometry. Using three‐dimensional stereo photogrammetric device, 14 craniofacial anthropometric measurements were performed and five indices were calculated in 52 children with Williams syndrome and 208 age and sex matched controls of Han Chinese ethnicity. Except intercanthal width, mouth breadth, morphological face height, nasal height‐breadth index, nasal breadth‐depth index, morphological ear index, the Williams syndrome group under 3 years old were smaller than the control group in the other 12 variables. Compared with the control group, the Williams syndrome group aged 3–5 years old had smaller biocular breadth, nasal length, nasorostral angle, bitragal breadth, ear width, morphological ear index and face depth. The Williams syndrome group aged above 6 years old had smaller biocular breadth, nasal breadth, bitragal breadth, ear width, ear length and face depth than the control group. The craniofacial variability index of the Williams syndrome group was greater than the control group. Greater variation was found among children with Williams syndrome than normal in China, specifically at eye, nose, ear and face shape, which demonstrate the usefulness of three‐dimensional stereo photogrammetric analysis in supporting accurate diagnose of the patient with Williams syndrome.     

Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome

Butler MG, Pratesi R, Watson MS, Breg WR, Singh DN. Anthropometric and craniofacial patterns in mentally retarded males with emphasis on the fragile X syndrome. Clin Genet 1993: 44: 129–138. © Munksgaard, 1993 Anthropometric and craniofacial profile patterns indicating the percent difference from the overall mean were developed on 34 physical parameters with 31 white, mentally retarded males (23 adults and 8 children) with the fra(X) syndrome matched for age with 31 white, mentally retarded males without a known cause of their retardation. The fra(X) syndrome males consistently showed larger dimensions for all anthropometric variables, with significant differences for height, sitting height, arm span, hand length, middle finger length, hand breadth, foot length, foot breadth, and testicular volume. A craniofacial pattern did emerge between the two groups of mentally retarded males, but with overlap of several variables. Significant differences were noted for head circumference, head breadth, lower face height, bizygomatic diameter, inner canthal distance, ear length and ear width, with the fra(X) syndrome males having larger head dimensions (head circumference, head breadth, head length, face height and lower face height), but smaller measurements for minimal frontal diameter, bizygomatic diameter, bigonial diameter, and inner canthal distance. Several significant correlations were found with the variables for both mentally retarded males with and without the fra(X) syndrome. In a combined anthropometric and craniofacial profile of 19 variables comparing 26 white fra(X) syndrome males (13 with high expression (>30%) and 13 with low expression (<30%), but matched for age), a relatively flat profile was observed with no significant differences for any of the variables. Generally, fra(X) syndrome males with increased fragile X chromosome expression have larger amplifications of the CGG trinucleotide repeat of the FMR-1 gene. No physical differences were detectable in our study between fra(X) males with high expression and apparently larger amplifications of the CGG trinucleotide repeats compared with those patients with low expression. Our research illustrates the use of anthropometry in identifying differences between mentally retarded males with or without the fra(X) syndrome and offers a comprehensive approach for screening males for the fra(X) syndrome and selecting those individuals for cytogenetic and/or molecular genetic testing.     

Anthropometric comparison of mentally retarded males with and without the fragile X syndrome

An anthropometric survey of 41 variables (weight, height, 10 linear, 4 breadth, 22 craniofacial, 2 skinfold, and testicular volume), including multivariate discriminant analysis, was undertaken on 110 mentally retarded males (39 with and 71 without the fra(X) syndrome). The mean Z scores of the fra(X) syndrome males fell between -2.00 and 8.38 for bizygomatic diameter and testicular volume, respectively, and the range of the mean Z scores of the non-fra(X) males was from -2.64 to 2.26 for hand breadth and testicular volume, respectively. There was a statistically significant difference (P less than .05) between fra(X) and non-fra(X) males for 18 measurements (weight, height, 7 linear, 2 breadth, 5 craniofacial, 1 skinfold, and testicular volume), with the greater measurements (excluding bizygomatic diameter) found in fra(X) males. Sitting height, knee-buttock length, middle finger length, and hand length were negatively correlated (P less than .05) with age, whereas bizygomatic diameter, ear length, and ear width were positively correlated (P less than .05) with age and head circumference, head length, and outer canthal distance were positively correlated (P less than .05) with fra(X) chromosome expression in the fra(X) males. Triceps and subscapular skinfold thicknesses were negatively correlated (P less than .05) with age, whereas ankle breadth, ear length, ear width, and nose length were positively correlated (P less than .05) in the non-fra(X) males. Discriminant analysis of 34 fra(X) and 71 non-fra(X) males resulted in a discriminant function based on 6 of 17 anthropometric variables and age.(ABSTRACT TRUNCATED AT 250 WORDS)     

Photoanthropometric study of facial growth in Noonan syndrome

We present a photoanthropometric analysis of 104 individuals with Noonan syndrome. The study contained 53 males and 51 females with an age range of one to 60 years (mean 13.8 years). The results provide an objective evaluation of facial abnormality in Noonan syndrome. Individuals with Noonan syndrome are demonstrated to have an increased mid face height, hypertelorism, retrognathia, a lower nasal bridge and nasal root, a wider mouth, a more prominent upper lip, and apparently lower set ears than normal control individuals. Within the patient group an apparent alteration of facial structure was noted with increasing age, suggesting that remodelling of the characteristic face in Noonan syndrome may occur into adult life. © 1993 Wiley-Liss, Inc.     

Path analysis of family resemblance for cranio-facial traits in Andhra Pradesh nuclear families and twins

Path analysis of 12 cranio-facial measurements from a sample of nuclear families and twins from Andhra Pradesh, India is used to test hypotheses about the familial transmission of these traits. For bigonial breadth and ear dimensions, the transmission from parent to child is consistent with simple autosomal polygenic inheritance, but length, breadth and circumference of the head, facial breadth and nose dimensions show evidence of transmission in excess of polygenic expectations. Additional non-transmissible resemblance of sibling pairs is not significant for any of the variables, but twin pairs do exhibit significant additional resemblance for head circumference, head length, minimum frontal breadth, bizygomatic breadth and ear dimensions. The effect of interobserver measurement differences can be detected for head breadth, minimum frontal breadth, bigonial breadth, total facial height and nose dimensions.     

Path analysis of family resemblance for cranio-facial traits in Andhra Pradesh nuclear families and twins

Path analysis of 12 cranio-facial measurements from a sample of nuclear families and twins from Andhra Pradesh, India is used to test hypotheses about the familial transmission of these traits. For bigonial breadth and ear dimensions, the transmission from parent to child is consistent with simple autosomal polygenic inheritance, but length, breadth and circumference of the head, facial breadth and nose dimensions show evidence of transmission in excess of polygenic expectations. Additional non-transmissible resemblance of sibling pairs is not significant for any of the variables, but twin pairs do exhibit significant additional resemblance for head circumference, head length, minimum frontal breadth, bizygomatic breadth and ear dimensions. The effect of interobserver measurement differences can be detected for head breadth, minimum frontal breadth, bigonial breadth, total facial height and nose dimensions.     

Vertical and horizontal neoclassical facial canons in Turkish young adults

Four vertical and three horizontal measurements were taken to assess the validity of neoclassical facial canons in 500 (272 female, 228 male) healthy, young adults between the ages of 18 and 25 years from Turkey and to compare them with a different population. The measurements were made by a millimetric compass. The special head height was longer than the special face height in the majority of our group (women/men: 97.8%/91.7%). The three-section facial profile canon was equal in only one male subject (women/men: 0/0.4%). Faces with four equal profile sections were not seen in either of the sexes. The nose length was longer than the ear length in the minority of our population (women/men: 1.5%/1.3%). The intercanthal distance was shorter than the nose width and left eye fissure length in the majority of our subjects (women/men: 50.4%/78.9% and 50.0%/52.2% respectively). The mouth width was greater than 1.5 times the nose width in the majority of this study (women/men: 66.9% vs 49.1%).     

中国蒙古族头面部的体质人类学特征

目的 探讨中国蒙古族头面部体质人类学特征以及蒙古族各个族群头面部体质指标值的差异。 方法 对蒙古族17个族群的12项头面部测量指标（头长、头宽、面宽、额最小宽、形态面高、鼻高、鼻宽、眼内角间宽、容貌耳长、唇高、口宽、耳上头高）的均值进行聚类分析与主成分分析。 结果 东北三省的杜尔伯特部、郭尔罗斯部、阜新蒙古族、喀左县蒙古族的头宽、面宽、鼻宽值较小,口宽、额最小宽值小,两眼之间的距离近。北方汉族与科尔沁部头面部特征最为接近。巴尔虎部、鄂尔多斯部和青海和硕特部的头宽、面宽、鼻宽值大,而口宽、额最小宽值小,两眼之间的距离较近。布里亚特部、额济纳土尔扈特部、赤峰蒙古族、东北汉族、锡林郭勒蒙古族的共同特点是头、面、鼻较宽或中等,口宽、额最小宽值大,两眼之间的距离大。新疆察哈尔部和土尔扈特部的头宽、面宽、鼻宽值小,而口宽、额最小宽值中等,两眼之间的距离中等。云南蒙古族头面部特征与北方各个蒙古族族群差距较大。 结论 按照头面部特征可以将蒙古族分为3个大组。主成分分析表明,头面部和五官的宽度指标是区分蒙古族各个族群头面部形态特征的主要依据。北方汉族与蒙古族头面部特征有一定的共性。总体上来说,蒙古族面高、鼻高、形态面高均值与东亚类型均值接近,而不是与北亚类型接近。     

Molecular and cytogenetic characterization of a recurrent unbalanced translocation (4;21) (p16.3;q22.1): Relevance to the Wolf-Hirschhorn and Down syndrome critical regions

We report on an aneuploidy syndrome due to the unbalanced segregation of a familial translocation (4;21)(p16.3;q22.1) causing a partial 4p monosomy and a partial 21q trisomy. The three affected children presented with severe failure to thrive, short stature, microcephaly, profound hypotonia, and mental retardation. The face, very similar in the three children, is characterized by frontal bossing, upslanting of the palpebral fissures, short nose, and deep set ears, giving the overall appearance of the Down syndrome. The molecular study has defined the aneuploid segment on both 4p and 21q. Most of the Down syndrome critical region was found to be trisomic, while only part of the candidate Wolf-Hirschhorn syndrome critical region was deleted, suggesting that this region is not critical for the major malformations characteristic for WHS. © 1996 Wiley-Liss, Inc.     

Genetic determination of human facial morphology: links between cleft-lips and normal variation

Recent genome-wide association studies have identified single nucleotide polymorphisms (SNPs) associated with non-syndromic cleft lip with or without cleft palate (NSCL/P), and other previous studies showed distinctly differing facial distance measurements when comparing unaffected relatives of NSCL/P patients with normal controls. Here, we test the hypothesis that genetic loci involved in NSCL/P also influence normal variation in facial morphology. We tested 11 SNPs from 10 genomic regions previously showing replicated evidence of association with NSCL/P for association with normal variation of nose width and bizygomatic distance in two cohorts from Germany (N=529) and the Netherlands (N=2497). The two most significant associations found were between nose width and SNP rs1258763 near the GREM1 gene in the German cohort (P=6 × 10(-4)), and between bizygomatic distance and SNP rs987525 at 8q24.21 near the CCDC26 gene (P=0.017) in the Dutch sample. A genetic prediction model explained 2% of phenotype variation in nose width in the German and 0.5% of bizygomatic distance variation in the Dutch cohort. Although preliminary, our data provide a first link between genetic loci involved in a pathological facial trait such as NSCL/P and variation of normal facial morphology. Moreover, we present a first approach for understanding the genetic basis of human facial appearance, a highly intriguing trait with implications on clinical practice, clinical genetics, forensic intelligence, social interactions and personal identity.     

The face of Smith-Magenis syndrome: a subjective and objective study

We report a study of 55 subjects with Smith-Magenis syndrome, aged 9 months to 35 years. Each person has been evaluated with an assessment of "gestalt" and detailed facial measurement, using previously published methodology, with compilation of Z score pattern profiles. The facial phenotype of SMS is quite distinctive, even in the young child. The overall face shape is broad and square. The brows are heavy, with excessive lateral extension of the eyebrows. The eyes slant upwards and appear close set and deep set. The nose has a depressed root and, in the young child, a scooped bridge. With time, the bridge becomes more ski jump shaped. The height of the nose is markedly reduced while the nasal base is broad and the tip of the nose is full. The shape of the mouth and upper lip are most distinctive. The mouth is wide with full upper and lower lips. The central portion of the upper lip is fleshy and everted with bulky philtral pillars, producing a tented appearance that, in profile, is striking. With age, mandibular growth is greater than average and exceeds that of the maxilla. This leads to increased jaw width and protrusion and marked midface hypoplasia. Craniofacial pattern analysis supports these subjective impressions. After mid-childhood, mandibular dimensions consistently exceed their maxillary counterparts. Craniofacial widths are greater than corresponding depths and heights. Nasal height is reduced while nasal width is increased. There is mild brachycephaly. The most marked age related changes are increased width of the nose and lower face (mandibular width) with reduction in nasal height and midfacial depth.     

A stereo-photogrammetric method to measure the facial dysmorphology of children in the diagnosis of fetal alcohol syndrome

In diagnosing a child with fetal alcohol syndrome (FAS), anthropometric measurements of the face are conventionally performed by highly trained dysmorphologists using a hand-held ruler. This renders the screening of large populations of children for the facial features characteristic of FAS very time-consuming and costly. This study proposes a new, cost-effective, and non-intrusive method to measure in three dimensions the facial dysmorphology of children using stereo-photogrammetry. The face of each child is photographed in a control frame simultaneously by a pair of high-resolution digital cameras mounted 1.04 m from the child and 0.26 m apart. Software has been developed to calibrate the images and to compute the three-dimensional object-space coordinates of any point on the face from a measurement of the point on each of the images. The palpebral fissure lengths, inner canthal-, and interpupillary distances of 44 subjects were measured in this manner independently by two investigators and compared with measurements obtained by clinical specialists in the conventional manner. There was found to be no statistically significant difference between palpebral fissure lengths determined using the two techniques (paired Student’s t-test p-values are 0.29 and 0.18, respectively). It has also been demonstrated that facial measurements can be performed with greater consistency from a pair of stereo photographs than direct measurements from live subjects.     

Hypersociability in Williams syndrome: A role for the amygdala?

We read with great interest the paper of Riby et al. regarding atypical, unfamiliar face processing in Williams syndrome (WS; Riby, Doherty-Sneddon, & Bruce, 2008a). It offers considerable insight into the mechanism of facial perception in humans and a further elaboration of the hypersociability observed in patients with Williams syndrome. We would like to suggest that the neurologic mechanisms underlying the hypersociability in WS may be attributable to an impaired recognition of facial expressions of threat, a feature that localises to the amygdala.     

Hypersociability in Williams syndrome: a role for the amygdala?

We read with great interest the paper of Riby et al. regarding atypical, unfamiliar face processing in Williams syndrome (WS; Riby, Doherty-Sneddon, & Bruce, 2008a). It offers considerable insight into the mechanism of facial perception in humans and a further elaboration of the hypersociability observed in patients with Williams syndrome. We would like to suggest that the neurologic mechanisms underlying the hypersociability in WS may be attributable to an impaired recognition of facial expressions of threat, a feature that localises to the amygdala.     

The influence of perennial allergic rhinitis on facial type and a pilot study of the effect of allergy management on facial growth patterns

Perennial rhinitis with an allergic component (PRAC) in association with chronic mouthbreathing has been thought to cause skeletal open-bite facial type and narrow transverse facial dimensions. The object of this study was to supply data for this theory and to determine if allergy management would alter the course of facial growth. When a group of children, aged 5 to 10 years, with PRAC was compared with a matched control sample, a significantly larger palatomandibular angle and lower anterior facial height were found for the PRAC group. Transverse cephalometric measurements showed significantly narrower bilateral orbital breadth, bizygomatic, and binasal dimensions (narrower face) of the PRAC patients compared with the control sample. A pilot study of twelve PRAC patients who received 2 1/2 years of allergy management revealed no significant dento-facial dimensional change. This study suggests that PRAC with chronic mouthbreathing can alter the development of the midface. Whether allergy therapy can prevent or change this is as yet uncertain.     

Molecular cytogenetic characterization of a 10p14 deletion that includes the DGS2 region in a patient with multiple anomalies

We report on a prenatally diagnosed four-month-old boy with DiGeorge-like phenotype and a deletion of chromosome 10pter --> 14. Fluorescence in situ hybridization (FISH) experiments using phage artificial chromosome (PAC) and yeast artificial chromosome (YAC) clones indicated that the chromosomal breakpoint was located at the proximal boundary of the DiGeorge syndrome 2 (DGS2) critical region. The patient demonstrated a high forehead, high arched eyebrows, short palpebral fissures, sparse eyelashes, prominent nose with bulbous tip, small mouth, receding chin, round ears with deficient helices, cardiac defects atrial septal defect (ASD), ventricular septal defect (VSD), mild brachytelephalangy, mild syndactyly, hypoplastic left kidney, undescended testes, muscular hypertonia, dorsally flexed big toes, and developmental delay. The phenotype corresponded well with the clinical signs of 10p deletion of this region that were described previously. The facial features appeared different from the typical face with the 22q11 deletion.