1. bookVolumen 14 (2020): Heft 2 (April 2020)
Zeitschriftendaten
License
Format
Zeitschrift
eISSN
1875-855X
Erstveröffentlichung
01 Jun 2007
Erscheinungsweise
6 Hefte pro Jahr
Sprachen
Englisch
Uneingeschränkter Zugang

Ablepharon macrostomia syndrome in a Thai patient: case report and literature review

Online veröffentlicht: 04 Aug 2020
Volumen & Heft: Volumen 14 (2020) - Heft 2 (April 2020)
Seitenbereich: 83 - 88
Zeitschriftendaten
License
Format
Zeitschrift
eISSN
1875-855X
Erstveröffentlichung
01 Jun 2007
Erscheinungsweise
6 Hefte pro Jahr
Sprachen
Englisch

In 1977, McCarthy and West described 2 boys with similar clinical features including absent eyelids, alopecia totalis (eyebrows, eyelashes, and hair), large mouth, malformed ears, expressionless facies, and ambiguous genitalia with cryptorchidism, and they named this congenital disorder “ablepharon macrostomia syndrome” (AMS) [1]. AMS is a rare autosomal dominant congenital disorder (AMS; Online Mendelian Inheritance in Man (OMIM) 200110) [2]. To our knowledge, only 20 cases have been reported to date, and all in patients from Western countries [2,3,4,5,6,7,8,9,10,11,12,13,14,15,16,17,18,19,20,21]. Of these, 10 cases were examined by molecular studies, which confirmed a TWIST2 variation [20].

Case report

A 3-month-old girl was referred to Songklanagarind Hospital, a 1,000-bed teaching hospital of Prince of Songkla University in Southern Thailand, for evaluation of multiple congenital anomalies. She was born at a provincial hospital, a third child to parents (46-year-old mother and a 44-year-old father) who were nonconsanguineous. She was delivered by cesarean section at 35 weeks’ gestation due to fetal distress. Her birth weight was 2,430 g (45th percentile), length 46 cm (52nd percentile), and head circumference 33 cm (78th percentile) [22].

Postnatally, it was observed that she had dysmorphic features, which are a severe abnormality of the eyelids that needed eye lubricants (Figure 1). She had no family history of genetic or ocular diseases. On her first day of life, she was intubated as she had respiratory distress. After extubation at 4 days of life, she fully recovered, received formula feeding, and gained some weight. She was discharged home at 20 days of age at a weight of 2,500 g.

Figure 1

The patient at 1 week old, note the severe ectropion, macrostomia, and alopecia totalis (with consent from the mother of the patient for publication).

At 3 months of age, she was referred to our institution. Physical examination found weight 4.0 kg, length 54 cm, and head circumference 36 cm, all of which were between the 3rd and 10th percentiles for unadjusted normal growth of Thai girls. She had severe ectropion of both upper and lower eyelids, ablepharon, alopecia totalis (hair, eyebrows, and eyelashes), hypertelorism, a flat nasal bridge, thick and flared alae nasi, flat malar eminences, a wide mouth, enlarged cheek pads, micrognathia, small, low-set ears, and an abnormally formed left ear. Her hands and feet were normal. Her skin was thin, redundant, and wrinkled with excessive creases in all extremities. An examination of her genitalia found no palpable clitoris, hypoplasia of both labia minora and labia majora, and vaginal stenosis. Her anus was located anteriorly (Figure 2). Chromosome analysis revealed 46, XX karyotype.

Figure 2

Genital examination, note absent clitoris, and the anteriorly located anus (with consent from the mother of the patient for publication).

The main problem for our patient was the severe ectropion that required treatment with eye lubricants and eye shields, for which she was followed up every 6–8 weeks by an ophthalmologist. Physical growth and mental milestones were assessed every 3–4 months and were within normal ranges. She continued to grow well with her weight, length, and head circumference increasing according to 3rd–10th percentiles for normal Thai girls. Developmental milestones, as assessed at every follow-up visit by a Denver II test, were average for her age in all domains. At age 1 year, she weighed 8.2 kg with a body length of 71 cm and head circumference 44 cm. To treat her eye problems, full-thickness skin grafting operation was performed at 1 year and 2 months old and permanent tarsorrhaphy at 1 year and 6 months old, and at that time she weighed 9.4 kg with a body length of 77 cm and head circumference 46 cm (Figure 3). She had no erupted teeth at age 2 years.

Figure 3

The patient at 1 year and 6 months old, note the improvement of the eyelids following skin graft (with consent from the mother of the patient for publication).

We decided to send a blood sample for whole exome sequencing (WES) at 9 months of age because the anomalies seemed to be severe and a comprehensive gene variation study was required to give us more insight into her underlying problems and to counsel her parents regarding their child's long-term prognosis. After written informed consent was obtained from her parents, 3 mL of peripheral blood was obtained and genomic DNA was extracted from leukocytes using a Puregene blood kit (Qiagen). A DNA sample was prepared according to Illumina sequencing. In the exome capture step, the sequencing libraries were enriched using SureSelect Human All Exon V5 kits. The captured libraries were sequenced using an Illumina HiSeq 4000 Sequencer. Trio WES analysis was performed at the Excellence Center for Medical Genetics, King Chulalongkorn Memorial Hospital, Bangkok. All single-nucleotide variants [SNVs; formerly known as single-nucleotide polymorphisms (SNPs)] and indels were filtered using the following criteria: (1) located in exons or flanking introns of the listed genes, (2) not synonymous, (3) rare with 1000 G minor allele frequency of <1%, (4) <10 in the Exome Aggregation Consortium (ExAC) database, (5) <3 alleles in 1,084 Thai exome controls, (6) (if the variant was a missense) predicted to be damaging by SIFT and Polyphen, and (7) related to the phenotype of the patient.

A heterozygous missense c.223G>A (p.Glu75Lys) variation in TWIST2 was identified in the patient, but not in the parents by the trio-WES analysis. (chr2:239757079 G/A, p.Glu75Lys (E75K), rs796065049, [G/A]AGCGCCAGCGCACCCAGTCG, forward strand).

The mother of the patient consented to publication of this case report including all clinical photographs. The Institutional Review Board of the Faculty of Medicine, Prince of Songkla University approved the publication of this case (approval No. REC.62-056-1-1).

Discussion

Our patient had the clinical features of severe eye abnormalities (ectropion, absent eyelids), skin defects consistent with ectodermal dysplasia (thin, redundant and wrinkled skin, alopecia totalis, including absent eyebrows and eyelashes), and genital abnormalities (absent clitoris and hypoplasia of labia minora and labia majora). Although these clinical features, especially ectropion, are very specific to AMS, and these findings together are extremely rare, making the disease very difficult to simply and confidently diagnose by general pediatricians and ophthalmologists, even in a major teaching hospital such as ours. Therefore, we used WES to confirm the diagnosis of this rare syndrome. Although WES was used to confirm our diagnosis, this disease can also be confirmed by the much simpler Sanger sequencing, and a physician who has had previous experience with this method can use it to confirm a suspected case.

There are two other clinical syndromes, Barber–Say syndrome (BSS) and Setleis syndrome (FFDD3), focal facial dermal dysplasia type 3, in which those affected will have clinical characteristics similar to AMS, such as the congenital skin, eye, and genital anomalies, mentioned above [1, 21, 23, 24]. However, there are some distinct clinical features that can be used to differentiate between the 3 syndromes, such as the hypertrichosis in BSS, or distichiasis of the upper eyelashes and bitemporal scarring in FFDD3 (Table 1). When WES became available, the causative gene defects of AMS and BSS were identified as being on the same gene, TWIST2, but with different missense variants or at different alleles; the p.Glu75Lys missense variant for AMS, a missense variant of p.Glu75Gln or p.Glu75Ala for BSS, and a duplication variant of p.Gln77_Arg78dup [19]. Both AMS and BSS have autosomal dominant inheritance. TWIST2 variations have also been identified in some FFDD3 patients as homozygous missense, nonsense, or frameshift variants of p.Leu109Pro, p.Gln119Ter, p.Gln65Ter, p.Arg31Glyfs*71, or p.Ser57Alafs*45 [25, 26]. In our patient, a WES of the missense variant on TWIST2, p.Glu75Lys, confirmed the diagnosis of AMS.

Clinical characteristics of the patient with ablepharon macrostomia syndrome compared with patients other syndromes having a TWIST2 variation

Clinical characteristicPresent caseAMS (%)BSS (%)FFDD3§ (%)
TWIST2 mutationp.Glu75Lysp.Glu75Lysp.Glu75Gln, p.Glu75Ala, p.Gln77_Arg78dupp.Leu109Pro, p.Gln119Ter, p.Gln65Ter, p.Arg31Glyfs*71, p.Ser57Alafs*45
Ophthalmic morphology
  Absent eyelids+756
  Ectropion+9481
  Entropion6††
Facial morphology
  Bitemporal narrowing+5650100
  Excessive creases+818189
  Macrostomia+8110033
  Small ears+755078
Ectodermal signs
  Sparse scalp hair+7589
  Sparse/absent eyebrows+10063100
  Sparse/absent eyelashes+10069100
  Wrinkled skin/redundant skin+948889
Genitalia and anus
  Small labia majora+5613
  Anteriorly located anus+25NA
Growth impairment±67NA
Facial morphology
  Extension of septum on philtrum50100
  Everted upper vermillion44
Ectodermal signs
  Hypertrichosis94
Limb anomalies
  Syndactyly446
  Camptodactyly38
Developmental delay302513

AMS, ablepharon macrostomia syndrome; BSS, Barber–Say syndrome; FFDD3, focal facial dermal dysplasia type 3, Setleis syndrome; NA, information not available.

AMS data from Brancati et al. [13], Marchegiani et al. [19], and De Maria et al. [20].

BSS data from Marchegiani et al. [19] and De Maria et al. [20].

FFDD3 data from Lee et al. [25] and Ayaz et al. [26]. Only reports of FFDD3 patients with TWIST2 variation are included.

Growth parameters of our patient were between the 3rd and 10th percentiles.

Distichiasis upper lashes in FFDD3 patients, which may resemble entropion, are present in 78% of reported cases.

There are several differences that can distinguish FFDD3 from AMS and BSS. The distinct FFDD3 phenotypes are bitemporal scarring, ophthalmological abnormalities such as distichiasis of the upper eyelashes and paucity of lower eyelashes, and ectodermal signs such as sparse eyebrows and/or hair, which are features shared between AMS and BSS [25]. The mode of inheritance for an FFDD3 patient with a TWIST2 variation is autosomal recessive [25]. However, the TWIST2 variation has been identified in only some FFDD3 patients [25, 27, 28]. Another identifiable cause is 1p36.22p36.21 duplication or triplication, which is an autosomal dominant inheritance [27, 28]. Still, many FFDD3 patients have not had an identifiable genetic cause to date [25].

TWIST2 is located at 2p37.3 and encodes for a basic helix–loop–helix protein binding to the E-box DNA motifs as a heterodimer with other similar proteins, and is considered as a transcription regulator for mesenchymal stem cell differentiation of chondrogenic and dermal tissues [2, 19, 20]. This variant of TWIST2 results in underdevelopment of eyelids and dysmorphologies of the skin (ectodermal dysplasia) including skin appendages (alopecia, absent or sparse eyebrows, and eyelashes) [19, 20, 25].

The structural defect of underdevelopment of the eyelids occurs at only the anterior lamella of the eyelids, but not the medial and posterior lamellae resulting in protruding eyelids known as ectropion, with severe cases having the appearance of absence of eyelids. As discussed by De Maria et al., “ablepharon” is a misnomer, but they recommended retaining the term for historical reasons [21]. Severe ectropion leads to an inability to close the eyelids completely and the term “lagophthalmos” can be used to describe the constantly open eyes. The complications of lagophthalmos are eye dryness, corneal abrasions, and superimposed infections.

Our patient was treated with eye lubricants and her eyes were covered by eye shields to prevent corneal abrasion and ulcers. At age 1.5 years, skin grafting on her upper eyelids was performed with good results. The macrostomia existing in our patient was relatively mild compared with previously reported cases, manifesting as only a thin vermillion border at both upper and lower lips.

The other striking clinical characteristics of our patient were multiple skin defects, namely alopecia totalis (absent eyebrows, eyelashes, and hair), and redundant and wrinkled skin. A skin biopsy was not performed, but our best assessment is that the girl might have absent hair follicles and sweat glands. Delayed dentition was also observed, and the girl has been followed for this problem. However, the girl has had no problems with nutritional intake as she has grown well with weight and height gain according to the 3rd–10th percentiles for normal unadjusted growth of Thai girls. Developmental milestones were assessed to be appropriate for age in all domains.

Genital abnormalities have been reported in 50–60% of patients with AMS, ambiguous genitalia with a small scrotum and micropenis in male patients, and atrophic labia majora or labia minora, or both, in female patients. Our patient had atrophic labia minor and labia majora, and an absent clitoris, which, to our knowledge, has not been reported previously.

Conclusion

In conclusion, we report a patient with typical clinical characteristics of AMS including severe ectropion, ectodermal dysplasia of alopecia totalis, absent eyebrows and eyelashes, excessive skin folds, macrostomia, and hypoplastic genitalia. Either Sanger sequencing or whole exome sequencing for the missense variant, p.Glu75Lys, of TWIST2 gene confirms the diagnosis of AMS. To our knowledge, this is the first reported case of AMS in a Thai patient, and the first reported case of AMS in Asia.

Figure 1

The patient at 1 week old, note the severe ectropion, macrostomia, and alopecia totalis (with consent from the mother of the patient for publication).
The patient at 1 week old, note the severe ectropion, macrostomia, and alopecia totalis (with consent from the mother of the patient for publication).

Figure 2

Genital examination, note absent clitoris, and the anteriorly located anus (with consent from the mother of the patient for publication).
Genital examination, note absent clitoris, and the anteriorly located anus (with consent from the mother of the patient for publication).

Figure 3

The patient at 1 year and 6 months old, note the improvement of the eyelids following skin graft (with consent from the mother of the patient for publication).
The patient at 1 year and 6 months old, note the improvement of the eyelids following skin graft (with consent from the mother of the patient for publication).

Clinical characteristics of the patient with ablepharon macrostomia syndrome compared with patients other syndromes having a TWIST2 variation

Clinical characteristicPresent caseAMS (%)BSS (%)FFDD3§ (%)
TWIST2 mutationp.Glu75Lysp.Glu75Lysp.Glu75Gln, p.Glu75Ala, p.Gln77_Arg78dupp.Leu109Pro, p.Gln119Ter, p.Gln65Ter, p.Arg31Glyfs*71, p.Ser57Alafs*45
Ophthalmic morphology
  Absent eyelids+756
  Ectropion+9481
  Entropion6††
Facial morphology
  Bitemporal narrowing+5650100
  Excessive creases+818189
  Macrostomia+8110033
  Small ears+755078
Ectodermal signs
  Sparse scalp hair+7589
  Sparse/absent eyebrows+10063100
  Sparse/absent eyelashes+10069100
  Wrinkled skin/redundant skin+948889
Genitalia and anus
  Small labia majora+5613
  Anteriorly located anus+25NA
Growth impairment±67NA
Facial morphology
  Extension of septum on philtrum50100
  Everted upper vermillion44
Ectodermal signs
  Hypertrichosis94
Limb anomalies
  Syndactyly446
  Camptodactyly38
Developmental delay302513

McCarthy GT, West CM. Ablepharon macrostomia syndrome. Dev Med Child Neurol. 1977; 19:659–72.McCarthyGTWestCMAblepharon macrostomia syndromeDev Med Child Neurol1977196597210.1111/j.1469-8749.1977.tb07999.xSearch in Google Scholar

O’Neill M. Ablepharon macrostomia syndrome; AMS (#200110) [Internet]. [cited 2019 Sep 14]. Available from: https://www.omim.org/entry/200110O’NeillMAblepharon macrostomia syndrome; AMS (#200110) [Internet][cited 2019 Sep 14]. Available from: https://www.omim.org/entry/200110Search in Google Scholar

Hornblass A, Reifler DM. Ablepharon macrostomia syndrome. Am J Ophthalmol. 1985; 99:552–6.HornblassAReiflerDMAblepharon macrostomia syndromeAm J Ophthalmol198599552610.1016/S0002-9394(14)77956-5Search in Google Scholar

Cesarino EJ, Pinheiro M, Freire-Maia N, Meira-Silva MC. Lid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis—a new syndrome? Am J Med Genet. 1988; 31:299–304.CesarinoEJPinheiroMFreire-MaiaNMeira-SilvaMCLid agenesis-macrostomia-psychomotor retardation-forehead hypertrichosis—a new syndrome?Am J Med Genet19883129930410.1002/ajmg.1320310207Search in Google Scholar

Jackson IT, Shaw K, del Pinal Matorras F. A new feature of the ablepharon macrostomia syndrome: zygomatic arch absence. Br J Plast Surg. 1988; 41:410–5.JacksonITShawKdel Pinal MatorrasFA new feature of the ablepharon macrostomia syndrome: zygomatic arch absenceBr J Plast Surg198841410510.1016/0007-1226(88)90084-7Search in Google Scholar

Markouizos D, Siddiqi U, Siddiqi S, Raziuddin K, Nangia B. Ablepharon macrostomia syndrome: report of a case and clinical delineation. Am J Med Genet. 1990; 47(Suppl):A66.MarkouizosDSiddiqiUSiddiqiSRaziuddinKNangiaBAblepharon macrostomia syndrome: report of a case and clinical delineationAm J Med Genet199047SupplA66Search in Google Scholar

Price NJ, Pugh RE, Farndon PA, Willshaw HE. Ablepharon macrostomia syndrome. Br J Ophthalmol. 1991; 75:317–9.PriceNJPughREFarndonPAWillshawHEAblepharon macrostomia syndromeBr J Ophthalmol199175317910.1136/bjo.75.5.317Search in Google Scholar

Cruz AA, Guimarães FC, Obeid HN, Ferraz VE, Noce TR, Martinez FE. Congenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndrome. Ophthal Plast Reconstr Surg. 1995; 11:284–7.CruzAAGuimarãesFCObeidHNFerrazVENoceTRMartinezFECongenital shortening of the anterior lamella of all eyelids: the so-called ablepharon macrostomia syndromeOphthal Plast Reconstr Surg199511284710.1097/00002341-199512000-00012Search in Google Scholar

Pellegrino JE, Schnur RE, Boghosian-Sell L, Strathdee G, Overhauser J, Spinner NB, et al. Ablepharon macrostomia syndrome with associated cutis laxa: possible localization to 18q. Hum Genet. 1996; 97:532–6.PellegrinoJESchnurREBoghosian-SellLStrathdeeGOverhauserJSpinnerNBAblepharon macrostomia syndrome with associated cutis laxa: possible localization to 18qHum Genet199697532610.1007/BF02267081Search in Google Scholar

Ferraz VEF, Melo DG, Hansing SE, Cruz AA, Pina-Neto JM. Ablepharon-macrostomia syndrome: first report of familial occurrence. Am J Med Genet. 2000; 283:281–3.FerrazVEFMeloDGHansingSECruzAAPina-NetoJMAblepharon-macrostomia syndrome: first report of familial occurrenceAm J Med Genet2000283281310.1002/1096-8628(20001002)94:4<281::AID-AJMG3>3.0.CO;2-SSearch in Google Scholar

Amor DJ, Savarirayan R. Intermediate form of ablepharon–macrostomia syndrome with CNS abnormalities. Am J Med Genet. 2001; 103:252–4.AmorDJSavarirayanRIntermediate form of ablepharon–macrostomia syndrome with CNS abnormalitiesAm J Med Genet2001103252410.1002/ajmg.1540Search in Google Scholar

Stevens CA, Sargent LA. Ablepharon-macrostomia syndrome. Am J Med Genet. 2002; 107:30–7.StevensCASargentLAAblepharon-macrostomia syndromeAm J Med Genet200210730710.1002/ajmg.10123Search in Google Scholar

Brancati F, Mingarelli R, Sarkozy A, Dallapiccola B. Ablepharonmacrostomia syndrome in a 46-year-old woman. Am J Med Genet. 2004; 127A:96–8.BrancatiFMingarelliRSarkozyADallapiccolaBAblepharonmacrostomia syndrome in a 46-year-old womanAm J Med Genet2004127A96810.1002/ajmg.a.2065815103726Search in Google Scholar

Cavalcanti DP, Matejas V, Luquetti D, Mello MF, Zenker M. Fraser and ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1. Am J Med Genet Part A. 2007; 143A:241–7.CavalcantiDPMatejasVLuquettiDMelloMFZenkerMFraser and ablepharon macrostomia phenotypes: concurrence in one family and association with mutated FRAS1Am J Med Genet Part A2007143A241710.1002/ajmg.a.3142617163535Search in Google Scholar

Kallish S, Mcdonald-Mcginn DM, van Haelst MM, Bartlett SP, Katowitz JA, Zackai EH. Ablepharon–macrostomia syndrome—extension of the phenotype. Am J Med Genet Part A. 2011; 155:3060–2.KallishSMcdonald-McginnDMvan HaelstMMBartlettSPKatowitzJAZackaiEHAblepharon–macrostomia syndrome—extension of the phenotypeAm J Med Genet Part A20111553060210.1002/ajmg.a.3428722002929Search in Google Scholar

Rohena L, Kuehn D, Marchegiani S, Higginson JD. Evidence for autosomal dominant inheritance of ablepharon–macrostomia syndrome. Am J Med Genet Part A. 2011; 155:850–4.RohenaLKuehnDMarchegianiSHigginsonJDEvidence for autosomal dominant inheritance of ablepharon–macrostomia syndromeAm J Med Genet Part A2011155850410.1002/ajmg.a.3390021595001Search in Google Scholar

Larumbe J, Villalta P, Velez I. Clinical variant of ablepharon macrostomia syndrome. Case Rep Dermatol Med. 2011; 2011:593045. doi: 10.1155/2011/593045LarumbeJVillaltaPVelezIClinical variant of ablepharon macrostomia syndromeCase Rep Dermatol Med20112011593045.10.1155/2011/593045350426723198177DOI öffnenSearch in Google Scholar

Feinstein E, Traish AS, Aakalu V, Kassem IS. A case report of ablepharon-macrostomia syndrome with amniotic membrane grafting. Case Rep Ophthalmol. 2015; 6:366–72.FeinsteinETraishASAakaluVKassemISA case report of ablepharon-macrostomia syndrome with amniotic membrane graftingCase Rep Ophthalmol201563667210.1159/000441615464971026600791Search in Google Scholar

Marchegiani S, Davis T, Tessadori F, Van Haaften G, Brancati F, Hoischen A, et al. Recurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromes. Am J Hum Genet. 2015; 97:99–110.MarchegianiSDavisTTessadoriFVan HaaftenGBrancatiFHoischenARecurrent mutations in the basic domain of TWIST2 cause ablepharon macrostomia and Barber-Say syndromesAm J Hum Genet2015979911010.1016/j.ajhg.2015.05.017457250126119818Search in Google Scholar

De Maria B, Mazzanti L, Roche N, Hennekam RC. Barber–Say syndrome and ablepharon–macrostomia syndrome: an overview. Am J Med Genet Part A. 2016; 170:1989–2001.De MariaBMazzantiLRocheNHennekamRCBarber–Say syndrome and ablepharon–macrostomia syndrome: an overviewAm J Med Genet Part A20161701989200110.1002/ajmg.a.3775727196381Search in Google Scholar

Hollanders K, Casteels I, Vandelanotte S, Reyniers R, Segers K, Nevens T, Mombaerts I. Use of the masquerade flap in ablepharon–macrostomia syndrome: a case report. Cornea. 2018; 37:929–32.HollandersKCasteelsIVandelanotteSReyniersRSegersKNevensTMombaertsIUse of the masquerade flap in ablepharon–macrostomia syndrome: a case reportCornea2018379293210.1097/ICO.000000000000156329538102Search in Google Scholar

Fenton TR, Kim JH. A systematic review and meta-analysis to revise the Fenton growth chart for preterm infants. BMC Pediatr. 2013; 13:59. doi: 10.1186/1471-2431-13-59FentonTRKimJHA systematic review and meta-analysis to revise the Fenton growth chart for preterm infantsBMC Pediatr2013135910.1186/1471-2431-13-59363747723601190DOI öffnenSearch in Google Scholar

O’Neill MF. Barber-Say syndrome; BBRSAY (# 209885). [Internet]. [cited 2019 Sep 14]. Available from: https://www.omim.org/entry/209885O’NeillMFBarber-Say syndrome; BBRSAY (# 209885). [Internet][cited 2019 Sep 14]. Available from: https://www.omim.org/entry/209885Search in Google Scholar

O’Neill MF. Focal facial dermal dysplasia 3, Setleis type; FFDD3 (# 227260). [Internet]. [cited 2019 Sep 14]. Available from: https://www.omim.org/entry/227260O’NeillMFFocal facial dermal dysplasia 3, Setleis type; FFDD3 (# 227260). [Internet][cited 2019 Sep 14]. Available from: https://www.omim.org/entry/227260Search in Google Scholar

Lee BH, Aggarwal A, Slavotinek A, Edelmann L, Chen B, Desnick RJ. The focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneity. J Med Genet. 2017; 54:585–90.LeeBHAggarwalASlavotinekAEdelmannLChenBDesnickRJThe focal facial dermal dysplasias: phenotypic spectrum and molecular genetic heterogeneityJ Med Genet2017545859010.1136/jmedgenet-2017-10456128663233Search in Google Scholar

Ayaz A, Yalcintepe S, Ozalp Yuregir O, Sahin Y, Ozer A, Eser M, Celik U. The TWIST2 mutation causes Setleis syndrome: a rare clinical case report. Clin Dysmorphol. 2017; 26:128–31.AyazAYalcintepeSOzalp YuregirOSahinYOzerAEserMCelikUThe TWIST2 mutation causes Setleis syndrome: a rare clinical case reportClin Dysmorphol2017261283110.1097/MCD.000000000000015627750268Search in Google Scholar

Weaver DD, Norby AR, Rosenfeld JA, Proud VK, Spangler BE, Ming JE, et al. Chromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III). Am J Med Genet A. 2015; 167A:1061–70.WeaverDDNorbyARRosenfeldJAProudVKSpanglerBEMingJEChromosome 1p36.22p36.21 duplications/triplication causes Setleis syndrome (focal facial dermal dysplasia type III)Am J Med Genet A2015167A10617010.1002/ajmg.a.3697325728400Search in Google Scholar

Lee BH, Kasparis C, Chen B, Mei H, Edelmann L, Moss C, et al. Setleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetrance. J Hum Genet. 2015; 60:717–22.LeeBHKasparisCChenBMeiHEdelmannLMossCSetleis syndrome due to inheritance of the 1p36.22p36.21 duplication: evidence for lack of penetranceJ Hum Genet2015607172210.1038/jhg.2015.10326311541Search in Google Scholar

Empfohlene Artikel von Trend MD

Planen Sie Ihre Fernkonferenz mit Scienceendo