The neonate was noted to have arthrogryposis involving the hips, wrists, and ankles, as well as bilateral talipes equinovarus
. A head ultrasound confirmed the prior fetal intracranial findings, and chest radiograph revealed an elevated right hemidiaphragm (Figure, panel C).
The left forefoot was rigid and held in an equinovarus
position (Figure 1).
Antenatal morphological ultrasound demonstrates once again its importance, having made it possible in our observation to demonstrate the vulvar cyst, the equinovarus
foot, and the single umbilical artery.
Birth anomalies were described as follows, based on the criteria of the 10th revision of the International Statistical Classification of Diseases and Related Health Problems (ICD-10): talipes equinovarus
(n = 1), polydactyly (n = 1), syndactyly (n = 1), other congenital anomaly of the foot (n = 2), Down syndrome (n = 3), macrocephaly (n = 1), unspecified syndrome (n = 1), spina bifida (n = 1), unspecified brain abnormality (n = 1), congenital anomaly of male genital tract (n = 1), unspecified head and neck abnormality (n = 2), and multiple malformations (n = 1).
Also we identified severe muscle hypotonia associated with skeletal anomalies: severe chest hypoplasia, curved short upper and lower limbs, talipes equinovarus
. Genitalia was normal male (Figure 3).
Anomalies included cardiovascular malformations, neural tube defect, microcephaly, limb reduction defect, and congenital talipes equinovarus
. Due to small number of cases, risk appears small though existent.
Ankle plantar flexor spasticity can also induce invertor moments resulting in equinovarus
postures seen in persons with high ankle plantar flexor spasticity .
The clinical and MRI features of TRPV4-spinal muscular atrophy, nonprogressive, lower extremity predominant are subtly different to DYNC1H1-and BICD2-SMALED; for instance, deformities are equinovarus
rather than calcaneovalgus and lower limb MRI shows sparing of biceps femoris and medial gastrocnemius rather than thigh adductors and semitendinosus .
At birth, the patient had coarse facial features with midface retraction, frontal bossing, bitemporal narrowing, wide anterior fontanel, hypertrichosis over the forehead, low nasal bridge, ocular hypertelorism, low set ears, abdominal distention, and bilateral talipes equinovarus
deformity of bilateral feet was present.
Several diseases are reportedly associated with RAPK, including plantar keratoderma, talipes equinovarus
, acrokeratoelastoidosis, psoriasis, nevus spilus, nevus anemicus, acne excorie , nonscarring alopecia , and bony anomalies in the form of the absence or hypoplasia of the terminal phalanx of the toes .
In addition to SNHL and ovarian insufficiency, neuromuscular abnormalities (spastic diplegia, dysarthria, titubation of the head, hyporeflexia, sensory neuropathy, demyelinating polyneuropathy, cerebellar ataxia, nystagmus, ophthalmoplegia, ptosis, seizures), developmental abnormalities (microcephaly, delayed motor and mental development, learning disabilities), and dysmorphic findings (pes cavus, pes equinovarus
, contracted heel cords, atypical facial features, short neck) were found to be associated with PRLTS1 (2,3,27,28,29).