Partial trisomy 1(q25qter) due to a de novo unbalanced 1;19 translocation in a neonate

We describe a male neonate with a duplication of 1(q25qter) due to de novo unbalanced translocation (1;19)(q25;pter). He had macrocephaly, wide sutures and wide anterior fontanelle, bilateral temporoparietal bossing, downward slanting palpebral fissures, low set, posteriorly rotated ears, downturned mouth corners, thin upper lip, retrognathia, high arched palate, triangular face, widely spaced nipples, bilateral single transverse palmar creases, bilateral partial syndactyly between second and third toes, ventricular dilatation, corpus callosum hypoplasia, and cavum septi pellucidi and cavum vergae, ventricular and atrial septal defects.     

Partial duplication of the long arm of chromosome 5: A case due to balanced paternal translocation and review of the literature

Summary A partial duplication of the distal segment of the long arm of chromosome 5 (q31qter) was observed in an infant with congenital malformations and dysmorphic features. The phenotypically normal father had a balanced translocation between the long arm of chromosome 5 and the short arm of chromosome 9: 46,XY,t(5;9)(q31;p24).The clinical and cytogenetic data obtained from six patients with partial duplications of two different long arm segments of chromosome 5 suggest that partial duplication of the distal long arm of chromosome 5 is associated with microcephaly, hypertelorism, epicanthus, strabismus, large upper lip, low-set, dysplastic ears, in addition to growth and psychomotor retardation. Partial duplication of the proximal part of the long arm of chromosome 5, on the other hand, is associated mainly with musculoskeletal abnormalities including muscle hypotrophy and hypotonia, scoliosis, lordosis, pectus carinatum, cubitus valgus, and genu valgum, in addition to psychomotor retardation. The dysmorphic features in this latter group include a bulging forehead, short nose, thick upper lip, low-set protruding ears and tapering, thin fingers.     

Duplication 5q and deletion 9p due to a t(5;9)(q34;p23) in 2 cousins with features of Hunter-McAlpine syndrome and hypothyroidism

We report on 2 similarly affected cousins with a compound imbalance resulting from a familial t(5;9)(q34;p23) and entailing both an ～17-Mb 5q terminal duplication and an ～12-Mb 9p terminal deletion as determined by G-banding, subtelomere FISH, and aCGH. The proband's karyotype was 46,XX,der(9)t(5;9)(q34;p23)mat.ish der(9)t(5;9)(q34;p23)(9pter-,5qter+).arr 5q34q35(163,328,000-180,629,000)×3, 9p24p23(194,000-12,664,000)×1. Her cousin had the same unbalanced karyotype inherited from his father. The clinical phenotype mainly consists of a distinct craniofacial dysmorphism featuring microcephaly, flat facies, down slanting palpebral fissures, small flat nose, long philtrum, and small mouth with thin upper lip. Additional remarkable findings were craniosynostosis of several sutures, craniolacunia and preaxial polydactyly in the proband and hypothyroidism in both subjects. The observed clinical constellation generally fits the phenotypic spectrum of the 5q distal duplication syndrome (known also as Hunter-McAlpine syndrome), except for the thyroid insufficiency which can likely be ascribed to the concurrent 9p deletion, as at least 4 other 9pter monosomic patients without chromosome 5 involvement had this hormonal disorder. The present observation further confirms the etiology of the HMS phenotype from gain of the 5q35→qter region, expands the clinical pictures of partial trisomy 5q and monosomy 9p, and provides a comprehensive list of 160 patients with 5q distal duplication.     

The morphology of the upper lip of Cypridoidea ostracods: taxonomic and phylogenetic significance

This paper represents the first study of the morphology of the upper lip (labrum) and hypostome of ostracods using scanning electron microscopy (S.E.M.). There is considerable variation in the upper lip morphology of the 23 species of Cypridoidea (Podocopina) ostracods used in this study. The detail of the upper lip morphology of each species is very distinctive, so that species determination can be made on this feature alone, but it is not useful in diagnosing genera or subfamilies. The hypostome is not readily studied due to the large amounts of dense pseudochaetae (small, setae-like projections) protruding from it and hence is considered not to be a useful taxonomic feature. Several features of the upper lip and mouth region are documented for the first time. Comparisons of the general morphology of the upper lips of Recent ostracods with the upper lip of the fossil ostracod Pattersoncypris micropapillosa Bate, 1972, indicate that there has been very conservative evolution in these features since the Cretaceous.     

Reduction cheiloplasty for upper lip hemangioma

A technique for reconstruction of the upper lip following excision of a cavernous hemangioma is presented. An apron-vermilion flap from the inner third of buccal side is elevated, allowing good exposure of the hemangioma. Following removal of the hemangioma, the excessive mucosa-vermilion flap is reduced to form an accurate upper lip shape. This method achieves a pleasing contour of the upper lip.     

Hereditary motor and sensory neuropathy (HMSN) IA, developmental delay and autism related disorder in a boy with duplication (17)(p11.2p12)

We present a 6-year-old boy with moderate developmental delay, gait disturbance, autism related disorder and mild dysmorphic features. He was seen for evaluation of his retardation since the age of 2.8 years. At first sight, a cytogenetic analysis showed a normal 46,XY karyotype. Neurological examination at the age of 5.5 years revealed a motor and sensory polyneuropathy. A quantitative Southern blot with probes PMP22 and VAW409 specific for Charcot-Marie-Tooth type 1 (CMT1) disclosed a duplication which confirmed the diagnosis HMSN Ia. Subsequently, GTG banded metaphases were re-evaluated and a small duplication 17p was seen on retrospect. Additional FISH with probe LSISMS (Vysis) specific for the Smith-Magenis region at 17p11.2 again showed a duplication. Both parents had a normal karyotype and the duplication test for CMT1 showed normal results for both of them. The boy had a de novo 46,XY,dup(17)(p11.2p12) karyotype. The present observation confirms previous findings of mild psychomotor delay, neurobehavioural features and minor craniofacial anomalies as the major phenotypic features of dup(17)(p11.2) and dup(17)(p11.2p12); in cases of duplications comprising the PMP22 locus HMSN1 is associated. A recognizable facial phenotype emerges characterized by a broad forehead, hypertelorism, downslant of palpebral fissures, smooth philtrum, thin upper lip and ear anomalies.     

Terminal deletion 1q43 in a newborn with hydrocephalus

A male newborn presented the main craniofacial features of the 1q terminal syndrome: prominent metopic sutures, flat nose bridge, wide short nose with anteverted nares, epicantus, telecanthus, long philtrum, thin upper lip with a well defined cupid bow, downturned corners of the mouth, retrognathia. The child also had an aqueductal obstructive hydrocephalus.     

Epithelium of lips and associated structures of the Indian major carp,Catla catla

Structural organization of the epithelium of the lips and associated structures of the Indian major carp,Catla catla, is described. The upper lip is thin and is associated on its dorsal side with a membranous fold of skin and the rostral cap. In contrast, the lower lip is thick and very conspicuous. It is associated on its ventral side with a fold of skin between it and the ventral head skin. The lower lip is divided into a non-projectile portion, a projectile portion and an intermediate groove region. The projectile portion remains folded covering a part of the ventral head skin when the mouth is closed. Their role in relation to the formation of the characteristic feeding tube is discussed. The epithelium of the lips and associated structures is stratified in nature and is composed of the epithelial cells, mucous cells, club cells, lymphocytes and the taste buds. The mucous cells are small, few or even absent and do not appear to secrete profusely at the surfaces of the upper and the lower lips. This suggests that the lips inCatla catla, which feeds on micro-organisms, do not need extra lubrication for protection against abrasion during feeding. In the epithelium at the folds of skin, the voluminous mucous cells secrete profusely and provide extra lubrication to their surface. This reduces the resistance to surface drag during stretching and enables the jaws to protrude with increasing efficiency and swiftness. The club cells are developed additionally to complement the mucous cells in the rostral cap and the upper lip epithelium. Their primary function appears protective in some way, which needs further confirmation. The taste buds, though few in the lower lip, are located in a good number in the upper lip on the characteristic epithelial papillae-like projections, and are projected at the surface. These have been associated with the acute gustatory sense of the fish. The taste buds are absent on the folds of skin where they may not be of much significance.     

Partial duplication of the face: case report and review

Complete or partial facial duplication is a rare congenital malformation. A spectrum of structural abnormalities varying in degrees of severity has been described in affected individuals. We present discordance for facial duplication between monozygotic twins in which maxillary and mandibular duplication was present in one. The involved twin showed the following findings: ocular hypertelorism, bifidity of the nose, duplication of the maxilla, macrostomia, cleft of the lower lip, hamartoma of the vomer, supernumerary teeth, duplication of the mandibular teeth, bifidity of the tongue, and hamartoma of the floor of the mouth. Surgical management of the facial anomalies is discussed. A review of the literature and discussion of this rare malformation are presented.     

Partial duplication 14q/deletion 2q in two sibs due to t(2;14) (q37.1;q31.2) pat

Two siblings are described with duplication 14q/deletion 2q due to a paternal translocation (2;14) (q37.1;q31.2). The first one, a boy, born at term, lived 14 days. The second one, a female foetus, was born after induced labour when the anomaly was discovered by way of amniocentesis. They both had almost identical phenotypes. From a study of the literature it is inferred that a typical asymmetric head form, low set abnormal ears, micrognathia, long upper lip, rib anomalies, camptodactyly, long fingers and contractures are prominent features of the syndrome.     

Three-dimensional lip morphometry in adults operated on for cleft lip and palate

Measurements were taken from 18 patients operated on for cleft lip and palate, aged 19 to 27 years, and 162 control subjects matched for sex, age, and ethnic group. Nine soft-tissue landmarks on the lips were digitized by a three-dimensional electromagnetic instrument. From the landmarks, several linear distances (mouth width, philtrum width, vermilion height of upper and lower lip, total vermilion height, total lip height), the interlabial angle, and some areas (vermilion of upper lip, vermilion of lower lip, total vermilion) and volumes (upper lip volume, lower lip volume, total lip volume) were calculated. Patient and reference data were compared by t tests and Watson-Williams tests. In the men, significant differences (p < 0.05) were found in width of the philtrum, height and area of the vermilion part of the upper lip, and total vermilion height and area (all larger in male patients than in controls). In the women, significant differences were found in the height and area of the vermilion part of the upper lip (larger in female patients than in controls), and in the height and area of the vermilion part of the lower lip (smaller in patients than in controls). In both sexes, the interlabial angle was smaller than in the reference population. In conclusion, the upper lip of adult patients operated on for cleft lip and palate differed from that of healthy controls of the same age, sex, and ethnic group. Surgical correction of cleft lip and palate failed to provide a completely normal appearance. The analysis pointed out those parts of the lips and mouth (in particular, the vermilion part of the upper lip) that differed the most from the norm. The method may be used to indicate to the surgeon and patient where additional procedures might be performed to approximate the morphologic characteristics of a reference population.     

Multifunctions of the upper lip and a ventral reflecting organ in a bioluminescent ostracod Vargula hilgendorfii (Müller, 1890)

Multifunctions of the upper lip in a bioluminescent myodocopid Vargula hilgendorfii were studied by video observation and histological method. The localization of luciferin and luciferase gland cells within the upper lip was partly successful. Two long protrusions of the upper lip, both of V. hilgendorfii and a non-luminescent species of the same family, immediately anterior to the mouth, were found to show very flexible movement especially while eating, as if smearing on the food surface a secretion from the protrusions (glands), which may support the hypothesized secretion of digestive enzymes from the upper lip. This hypothesis is further supported by the new finding of a pair of ducts which connect the basal part of the upper lip with the posterior digestive duct (stomach). Comparative studies of V. hilgendorfii with several sympatric non-luminescent species of the same family have also revealed that it has a characteristic reflecting organ immediately posterior to the anus. It is a conical small protrusion, as if dangling from the ventral edge of the abdomen at the apex of the cone. It is observable only in live specimens, when the furca, which is located outwardly to the organ, is sufficiently transparent. When illuminated, the reflecting organ reflects the distinct light. The diameter of the mirror (chemical composition provisionally analyzed) is about 6–8% of the carapace length. The organ develops from the very first stage of its ontogeny without reference to sex, which suggests that the function may be related to intraspecific signaling or predatory deterrence.     

Does your lip stick? Evolutionary aspects of the mouth morphology of the Indo‐Pacific clinging goby of the Sicyopterus genus (Teleostei: Gobioidei: Sicydiinae) based on mitogenome phylogeny

Sicydiinae gobies have an amphidromous life cycle. Adults grow, feed, and reproduce in rivers, while larvae have a marine dispersal phase. Larvae recruit back to rivers and settle in upstream habitats. Within the Sicydiinae subfamily, the Sicyopterus genus, one of the most diverse (24 species), is distributed in the tropical islands of the Indo‐Pacific. One of the characters used to determine Sicyopterus species is the upper lip morphology, which can be either smooth, crenulated, or with papillae, and with (2 or 3) or without clefts. The mouth is used as a secondary locomotor organ along with the pelvic sucker. It is thus strongly related to the climbing ability of species and is of major importance for the upstream migration and the colonization of insular freshwater systems. The mouth also has an important role in the feeding mechanism of these herbivorous species. In this paper, we have established a molecular phylogeny of the genus based on the 13 mitochondrial protein‐coding genes to discuss the relationship between 18 Sicyopterus species. There is a well‐supported dichotomy in the molecular phylogeny of the Sicyopterus genus and this separation into two clades is also morphologically visible, with the distinction of species with three clefts and species with 0 or 2 clefts on the upper lip. The mouth morphology can thus be separated with regard to the molecular phylogeny obtained. The evolution of the mouth morphology is discussed in terms of the adaptation of the Sicyopterus genus to settlement and life in tropical insular river systems.     

Facial artery in the upper lip and nose: anatomy and a clinical application

Twenty-five facial arteries were examined radiographically in 19 fresh cadavers that had been injected systemically with a lead oxide-gelatin mixture. Major branches of the facial artery in the upper lip and nose were investigated, and the anatomical variations were classified into three types on the basis of the anatomy of the lateral nasal artery, which was determined as an artery running toward the alar base. In 22 cases (88 percent), the facial artery bifurcated into the lateral nasal artery and superior labial artery at the angle of the mouth. In two cases (8 percent), the facial artery became an angular artery after branching off into the superior labial artery and the lateral nasal artery sequentially. In one case (4 percent), the facial artery became an angular artery after branching off into the superior labial artery, and the lateral nasal artery then branched off from the superior labial artery. Branches from the lateral nasal and superior labial arteries were observed stereographically. Vascular anastomoses between those branches were created in the upper lip, columella base, and nasal tip, and an intimate vascular network was formed. With a vascular network in the mucosa of the upper lip, a bilobed upper-lip flap was created for a clinical case with a full-thickness defect of the ala.     

Familial retinoblastoma (mother and son) with 13q14 deletion

Summary We present here the first familial cases (a mother and son) of dominantly inherited retinoblastoma with a 13q14 deletion [46,XY or XX,del(13)(q14.1q21.2)]. Their esterase D activities in red blood cells were as low as 50% of the normal control and the haplotype of esterase D was a type 1-0 in the mother and a type 2-0 in the son. They had peculiar facies characterized by a high forehead, low and broad nasal root, a short and bulbous nose, a long philtrum, and open mouth with a thin upper lip, and prominent earlobes. Chromosome and esterase D analysis should be performed in patients with retinoblastoma even if retinoblastoma seems to be transmitted through an autosomal dominant inheritance. This family indicates that one of the causes of dominantly inherited retinoblastoma is a chromosome deletion of part of the 13q14 band whether it is detectable by chromosome analysis or not.     

Qianlabeo Striatus, a New Genus and Species of Labeoninae from Guizhou Province, China (Teleostei: Cyprinidae)

Qianlabeo striatus gen. et sp. nov. is described from a stream tributary to the Beipan Jiang of the upper Zhu Jiang (Pearl River) drainage in Matou, Anshun County, Guizhou Province, China. This monotypic genus is mainly characterized by its oromadibular morphology, namely an upper lip only present in and fully adnate to the side of the upper jaw, not covered by the pendulous rostral fold; the median portion of the upper jaw lacking an upper lip but bearing a thin, flexible and cornified cutting edge that is fully covered by the pendulous rostral fold; a postlabial groove prolonged, extended anteromedially close to the anteromost point of the midline of the lower lip but not to meet with its counterpart. The type species of this genus, Q. striatus has a longitudinal dark stripe along the side of the body.     

Physical characteristics of Chinese Hakka

Using standard and internationally validated methods,86 anthropologic characteristics were determined in 650 male(305 from urban areas and 345 from rural areas) and 704 female(331 from urban areas,373 from rural areas) Chinese Hakka adults living in Guangdong and Jiangxi.The data were used to calculate 24 anthropologic indices,which were analyzed statistically.The physical characteristics of Hakka subjects were analyzed and compared with reference ethnic data.There were four main findings of this study.First,a small proportion of Hakka adults had an eye fold on the upper eyelid,but a large proportion had a mongoloid fold.The eye slits were narrow in most adults,had a medium nasal root height and straight bridges,and most of the external angles were prominent.The nasal base was upturned in most men.The distributions of the three types of nasal base in women were similar.The proportions of subjects with middle and high alae nasi heights were high and similar.Males with a maximum nostril diameter were mostly classified as transverse and oblique,while many women were classified as transverse and had relatively wide alae nasi.The round lobe type was the most common.Upper lip skin height was mostly classified as medium.Lips were classified as thin.The hair was black,eyes were brown,and the skin was yellowish.Second,the head length was long in male Hakka.The minimum frontal breadth,face breadth,lip height,and interocular breadth were similar to those of North-Asian populations.Meanwhile,head breadth,morphological facial height,nose breadth,mouth breadth,and nose height were similar to those of South-Asian populations.Head length was long in female Hakka.The minimum frontal breadth,face breadth,lip height,and interocular breadth were similar to those of North-Asian populations.Head breadth,nose breadth,and mouth breadth were similar to those of South-Asian populations.Third,the stature of male and female Hakka in urban and rural areas was classified as medium.The proportions of male and female Hakka classified as mesocephaly(length-breadth index of the head),hypsicephalic type,metriocephalic type(breadth-height index of the head) mesorrhiny,long trunk,subbrachyskelic type,broad shoulder breadth,and narrow distance between iliac crests were higher than those of other types.Finally,principal component analyses showed that the physical characteristics of Hakka were between those of South-Asian and North-Asian ethnic populations,but were generally closer to those of North-Asian populations in China.     

Valproic acid and lamotrigine treatment during pregnancy: The risk of chromosomal abnormality

A baby born to an epileptic mother had dysmorphological features associated with 47,XXX karyotype. The mother had been treated with valproic acid (1800 mg per day) and lamotrigine (100 mg per day) throughout pregnancy. Dysmorphological features detected in baby were intrauterine growth retardation, hypertelorism, flattened nasal bridge, low set malformed auriculas, micrognathia, very small an bow-shaped mouth with thin upper lip, cleft palate, arachnodactyly, camptodactyly, secundum atrial septal defect, bilateral hammer toes and decreased creases on the soles. At 6 months old she showed motor retardation. The molecular analysis of parents revealed that extra X chromosome was inherited from the mother. In this case whether the dysmorphological features and 47,XXX karyotype were caused by lamotrigine and valproic acid treatment during pregnancy or coincidence is in question.     

New indications for botulinum toxin type a in cosmetics: mouth and neck

Botulinum toxin type A is frequently used to smooth hyperkinetic lines in the periocular and forehead areas of the upper face, but it has been used less frequently for indications in the lower face and neck. This study was designed to determine whether botulinum toxin treatment of the mouth and neck areas is as clinically successful as the treatment of the upper face. This was a retrospective study of patients who were treated with botulinum toxin type A (Botox) to soften hyperkinetic facial wrinkles. Of 100 patients randomly selected from a single clinical practice, 91 met the inclusion criteria and were divided into two groups for analysis. The 56 patients in group 1 did not receive treatment in the mouth and neck areas, whereas the 35 patients in group 2 were treated at least once in the mouth and neck areas. Patients were surveyed for periods ranging from 7 to 49 months. Most patients in each group had a single botulinum procedure during this period. Both groups of patients had comparable improvement of wrinkles both at the evaluation immediately after the neuromuscular blockade and during follow-up. In comparison with patients whose treatment was confined to the upper face, patients who received global treatment with botulinum toxin type A, including injections in the mouth and neck areas, were injected in more sites per procedure and had more procedures in combination with other therapies. Patient satisfaction with botulinum toxin treatment and outcomes was high in both groups. Botulinum toxin type A is an important tool within the therapeutic spectrum for the treatment of hyperkinetic facial wrinkles, including those in the areas of the mouth and neck.     

Development of the nervous system of the pluteus larva of Strongylocentrotus droebachiensis

Summary Development of the nervous system of the pluteus larva of Strongylocentrotus droebachiensis was investigated using indirect immunofluorescence with antibodies against dopamine, GABA, and serotonin, and glyoxylic acid-induced fluorescence of catecholamines. Serotonergic cells first appear in full gastrulae; dopaminergic and GABAergic cells are present in early four-arm plutei. The number of neurons and the complexity of the nervous system increases through development of the pluteus. In the pluteus the dopaminergic component of the nervous system includes a ganglion in the lower lip of the mouth and a pair of ganglia at the base of the post-oral arms which extend axons along the base of the circumoral ciliary band. The distribution of cells visualized by glyoxylic acid-induced fluorescence is similar to that of dopaminergic cells. GABAergic neurons occur in the upper lip and in the wall of the esophagus. Serotonergic neurons are present in the lower lip; the pre-oral hood contains an apical ganglion which extends axons along the base of the epidermis overlying the blastocoel. The dopaminergic and GABAergic components of the nervous system are associated with effectors involved in feeding and swimming. The serotonergic component is not associated with any apparent effectors but may have a role in metamorphosis.