Finger and phalangeal abnormalities (clinodactyly
, bipartite phalanges and phalangeal hypoplasia) were noticed in four cases.
1q25.2-q31.3 Deletion in a female with mental retardation, clinodactyly
, minor facial anomalies but no growth retardation.
(%) Mental Retardation 23 (92) 5 (18) 28 Low Set Ears 22 (92) 02 (8) 24 Upslanting Eyes 20 (71) 04 (29) 28 Downslanting Eyes 06 (86) 01 (14) 07 Epicanthic Folds 23 (96) 01 (04) 24 Micrognathia 03 (60) 02 (40) 05 Flat Nasal Bridge 18 (82) 04 (18) 22 Simian Crease 21 (95) 1 (05) 22 Clinodactyly
14 (93) 1 (07) 15 Overriding Toes/Fingers 10 (77) 3 (23) 13 Microcephaly 11 (73) 4 (27) 15 Hypotonia 25 (89) 3 (11) 28 Hypertelorism 8 (67) 4933) 12 Cleft Lip 1 (33) 2 (67) 3 Cleft Palate 1 (33) 2 (67) 3 Table 2.
The autopsy showed brachydactyly, rhizomelia, short neck, clinodactyly
, microtia and claw hand, which had not been described in prenatal ultrasound.
The clinical features of Peters plus syndrome includes a prominent forehead, narrow palpebral fissures, a long philtrum, cupid's bow upper lips, cleft lip and palate, preauricular ribs, micrognathia, a broad neck, cataracts and glaucoma, short limbs, brachydactyly, clinodactyly
, microcephaly, brain atrophy, agenesis of the corpus callosum, and variable developmental delay and intellectual disability.
Dysmorphic features included prominent glabella, asymmetric face, right malarial hypoplasia, three skin tags in the left ear and one in the right ear, right microtia and cleft earlobe, upslanting palpebral fissures, broad nasal root, narrow ala nasi, prominent columella, short neck, shoulder asymmetry, bilateral 5th clinodactyly
, bilateral partial cutaneous syndactyly between the 2nd and 3rd toes, and left testis in the inguinal canal.
Phenotypic findings include epicanthal folds, clinodactyly
, tall stature and hypotonia.
Bilateral 5th finger brachydactyly clinodactyly
, bilateral short broad thumbs and first toes, and mild mesomelia of the upper limbs were noted.
Physical examination showed clubfoot, low-set ears with dysplastic lobes and dysmorphic antihelix, anteverted nostrils, arachnodactyly, low-set thumbs, bilateral clinodactyly
of 5th finger of the hands, and varus foot.
Wall, "Outcomes of opening wedge osteotomy to correct angular deformity in little finger clinodactyly
," Journal of Hand Surgery, vol.
As isolated trisomyXshows no distinct malformations at birth except for minor abnormalities such as epicanthal fold and clinodactyly
, trisomy X may be totally asymptomatic at birth and likely diagnosed later in life .
The radiographs of the upper limbs displayed the following features: curving of the humerus bones bilaterally, underdeveloped styloid process of the ulna bilaterally, postaxial polydactyly and clinodactyly
bilaterally, hyperplastic capitate of the left wrist, undeveloped metacarpal for the extra digit in the left hand, and hypoplastic hamate of the right wrist.