Table 2 A clinical and phenotypic summary of Poland-Möbius syndrome in the literature when comprehensively described and accompanied by genetic studies
Year | Reference | Demographic | Genetic associations | Clinical features |
|---|---|---|---|---|
2021 | Current paper | Male infant Consanguineous No FHx | Mutation in PLXND1 gene (NM_015103.2; chr3q22.1) located on chromosome 3q21-q22 | Möbius: Bilateral facial palsy (R > L) Bilateral abducens palsy Dysphagia, Laryngomalacia |
Poland (Left): Hypoplasia of pectoralis major Chest wall deformity Absence of nipple areolar complex Hypoplasia of upper limb Symbrachydactyly of hand | ||||
Other: Atrial septal defect Generalized hypotonia | ||||
2016 | Vaccari et al. [40] | Male infant Consanguinity not stated | Deletion of the REV3L gene (NM_002912.5; chr6q21) | Möbius: Right facial nerve paralysis; epicanthic folds; micrognathia and cleft palate (Pierre Robin sequence, MIM261800); right abducens nerve paralysis; right auditory nerve paralysis |
Poland(Right): Right upper limb hypoplasia Flexion deformity of the left elbow and the left wrist Scoliosis, pectus excavatum | ||||
Other: Weight and head circumference < 3rd centile; length at 5th centile Intellectual disability | ||||
2013 | Flores et al. [39] | Male infant Non-consanguineous No FHx | Microarray only: Gain of 3 Mb on chromosome 3q23 | Möbius: Right sided facial palsy Bilateral abducens palsy Dysphagia Wide forehead, high arched palate, micrognathia |
Poland (left): Absent pectoral muscles Chest wall deformity and defect (lung hernia) Hypoplasia of nipple areolar complex Hypoplasia of upper limb | ||||
Other: Dextrocardia Left hydronephrosis Left talipes equinovarus | ||||
1993 | Donahue et al. [41] | Male infant Non-consanguineous | Karyotype showed a t(1;11)(p22;p13) translocation | Möbius: Bilateral facial palsy Bilateral abducens palsy |
Poland (left): Absent sternal head of pectoralis major Absent pectoralis minor Syndactyly of ipsilateral hand Hypoplastic nipple | ||||
Other: Cleft palate, Dextrocardia, mandibular hypoplasia, and multiple areas of diffuse brain volume loss | ||||
2012 | Ahmad et al. [42] | Male infant Non-consanguineous No FHx | Microarray only (normal molecular karyotype) | Möbius: Left facial palsy Strabismus Ptosis, low set ears, micrognathia |
Poland (right): Absent pectoral muscles Hypoplastic upper limb Symbrachydactyly of hand Hypoplastic thumb | ||||
Other: Brachycephaly Bilateral talipes equinovarus | ||||
2011 | Abbas et al. [43] | Male infant Non-consanguineous No FHx | Microarray only (normal molecular karyotype) | Möbius: Bilateral facial palsy (L > R) Bilateral abducens palsy High arched palate |
Poland (right): Hypoplastic pectoral muscles Hand acheiria | ||||
2010 | Carolina Cares et al. [44] | Male infant Consanguinity not stated | Normal male karyotype (46XY) | Möbius: Left facial palsy Left hemifacial microsomia Left microtia |
Poland (Left): Agenesis of left pectoralis, hypoplasia of left radius and hand | ||||
Other: Short neck,C4-C5 fusion | ||||
2009 | Al-Mazrou et al. [24] | Female infant Consanguineous | Normal female karyotype (46XX) | Möbius: Bilateral facial palsy |
Poland (Right): Hypoplastic right pectoralis major Hypoplastic right upper limb 2nd, 3rd and 4th partial syndactyly and brachydactyly | ||||
Other: Left hand digits camptodactyly Bilateral talipes equinovarus Macrocephaly Low set ears | ||||
2008 | Lopez de Lara et al. [45] | Male adolescent non-consanguineous no FHx | Microarray only (normal molecular karyotype) | Möbius: Bilateral facial palsy Bilateral ophthalmoplegia, bilateral ptosis Carp-shaped mouth, high arched palate |
Poland (left): Absent pectoralis major and trapezius Cubitus valgus Hypoplastic hand, 5th digit clinodactyly | ||||
Other: Hypogonadotrophic hypogonadism Micropenis Psychomotor delay | ||||
2005 | Puvabandistin et al. [22] | Male infant Consanguinity not stated | Normal male karyotype (46XY) | Möbius: Bilateral facial palsy Bilateral abducens nerve palsy bilateral epicanthus, negative canthal axis, micrognathia |
Poland (Right): Absent right pectoralis, nipple and areola Right forearm hypoplasia | ||||
Other: Atrial septal defect | ||||
2004 | Dufke et al. [34] | Male child Non-consanguineous | Normal male karyotype (46XY) | Möbius: Bilateral facial palsy Bilateral abducens nerve palsy |
Poland (Right): Absent right pectoralis muscles ulnar deviation of the right hand | ||||
Other: Global developmental delay Pierre Robbin sequence | ||||
1999 | Larrandaburu et al. [46] | Female adolescent Non-consanguineous Maternal aunt with Poland Syndrome | Microarray only (normal molecular karyotype) | Möbius: Bilateral facial palsy Bilateral convergent strabismus |
Poland (right): Aplasia of sternal head of pectoralis major, aplasia of pectoralis minor Aplasia of breast Hand symbracydactyly, triphalangeal thumb | ||||
Other: Severe psychomotor delay | ||||
1997 | Matsui et al. [47] | Male child Consanguinity not stated No FHx | Microarray only (normal molecular karyotype) | Möbius: Bilateral facial palsy Bilateral abducens palsy Esotropia right eye |
Poland (Right): Aplasia of pectoral muscles with associated chest wall defect only | ||||
Other: Right bundle branch block ASD with significant left to right shunt | ||||
1984 | Bosch-Banyeras et al. [48] | Male infant Non-consanguineous No FHx | Microarray only (normal molecular karyotype) | Möbius: Bilateral facial palsy Convergent strabismus Dysphagia |
Poland (left): Hypoplasia of pectoralis major Chest wall deformity and defect (lung hernia) Absence of nipple areolar complex Hypoplastic upper limb Hand acheiria | ||||
Other: Dextrocardia | ||||
1981 | Parker et al. [49] | Male adolescent Non-consanguineous | Microarray only (normal molecular karyotype) | Möbius: Bilateral facial palsy Bilateral abducens palsy Micrognathia, bilateral ear anomalies, tongue atrophy & weakness |
Poland (left): Absent pectoralis major and minor Hypoplastic left arm Symbrachydactyly of hand, rudimentary thumb | ||||
Other: Left talipes equinovarus, hypoplastic leg and foot |